Canonical Allele Identifier: CA1519704828
Gene: SORBS2 HGNC NCBI

Linked Data

dbSNP Id: rs2099102320

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185795852A>G , CM000666.2:g.185795852A>G GRCh38
NC_000004.11:g.186717006A>G , CM000666.1:g.186717006A>G GRCh37
NC_000004.10:g.186954000A>G NCBI36
NG_029709.1:g.165865T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000421420.6:c.-176-20486T>C ENSP00000393258.2:n.-176-20486T>C
ENST00000451974.6:c.-41+14896T>C ENSP00000401818.2:n.-41+14896T>C
ENST00000487184.2:c.-338+15812T>C ENSP00000511890.1:n.-338+15812T>C
ENST00000695409.1:c.-237+15812T>C MANE Select ENSP00000511888.1:n.-237+15812T>C
ENST00000695410.1:c.-338+15812T>C ENSP00000511891.1:n.-338+15812T>C
ENST00000695411.1:c.-173+15812T>C ENSP00000511893.1:n.-173+15812T>C
ENST00000698538.1:n.178-20486T>C
ENST00000698540.1:c.-443+15812T>C ENSP00000513785.1:n.-443+15812T>C
ENST00000698843.1:c.-173+15812T>C ENSP00000513979.1:n.-173+15812T>C
ENST00000706921.1:c.-374+15812T>C ENSP00000516628.1:n.-374+15812T>C
ENST00000284776.11:c.-337-20486T>C ENSP00000284776.7:n.-337-20486T>C
ENST00000319471.13:c.-173+15086T>C ENSP00000322182.9:n.-173+15086T>C
ENST00000355634.9:c.-180-20486T>C ENSP00000347852.5:n.-180-20486T>C
ENST00000393523.6:c.-269+15812T>C ENSP00000377158.2:n.-269+15812T>C
ENST00000393528.7:c.-181+15812T>C ENSP00000377162.3:n.-181+15812T>C
ENST00000415274.5:c.-172-20486T>C ENSP00000415392.1:n.-172-20486T>C
ENST00000419063.5:c.-181+15812T>C ENSP00000408504.1:n.-181+15812T>C
ENST00000420158.5:c.-177+15086T>C ENSP00000410233.1:n.-177+15086T>C
ENST00000421639.5:c.-181+15086T>C ENSP00000405646.1:n.-181+15086T>C
ENST00000428330.5:c.-177+15812T>C ENSP00000402328.1:n.-177+15812T>C
ENST00000429056.5:c.-229+15812T>C ENSP00000390162.1:n.-229+15812T>C
ENST00000431902.5:c.-168-20486T>C ENSP00000405432.1:n.-168-20486T>C
ENST00000432655.5:c.-180-20486T>C ENSP00000407006.1:n.-180-20486T>C
ENST00000439049.5:c.-41+14896T>C ENSP00000416464.1:n.-41+14896T>C
ENST00000439914.5:c.-198+15812T>C ENSP00000408909.1:n.-198+15812T>C
ENST00000444781.5:c.-172-20486T>C ENSP00000396183.1:n.-172-20486T>C
ENST00000448662.6:c.-41+14896T>C ENSP00000409158.2:n.-41+14896T>C
ENST00000449407.6:c.-219+15812T>C ENSP00000397262.2:n.-219+15812T>C
ENST00000451958.5:c.-181+15812T>C ENSP00000405092.1:n.-181+15812T>C
ENST00000456060.5:c.-237+15812T>C ENSP00000389829.1:n.-237+15812T>C
ENST00000462661.1:n.576+15812T>C
ENST00000463104.5:n.189+15812T>C
ENST00000464819.5:n.167+15086T>C
ENST00000469627.1:n.154-20486T>C
ENST00000470685.5:n.575+15812T>C
ENST00000476878.1:n.174-20486T>C
ENST00000478249.5:n.297+15812T>C
ENST00000488562.1:n.513-20486T>C
ENST00000493709.5:n.386+15812T>C
NM_001145670.1:c.-219+15812T>C NP_001139142.1:n.-219+15812T>C
NM_001145671.2:c.-173+15086T>C NP_001139143.1:n.-173+15086T>C
NM_001145672.1:c.-41+14896T>C NP_001139144.1:n.-41+14896T>C
NM_001270771.1:c.-180-20486T>C NP_001257700.1:n.-180-20486T>C
NM_003603.6:c.-181+15812T>C NP_003594.3:n.-181+15812T>C
NM_021069.4:c.-337-20486T>C NP_066547.1:n.-337-20486T>C
XM_005263307.1:c.-181+15812T>C XP_005263364.1:n.-181+15812T>C
XM_005263308.1:c.-181+15812T>C XP_005263365.1:n.-181+15812T>C
XM_005263310.1:c.-181+15812T>C XP_005263367.1:n.-181+15812T>C
XM_005263311.1:c.-181+15812T>C XP_005263368.1:n.-181+15812T>C
XM_005263312.1:c.-181+15812T>C XP_005263369.1:n.-181+15812T>C
XM_005263313.1:c.-181+15812T>C XP_005263370.1:n.-181+15812T>C
XM_006714358.1:c.-181+15812T>C XP_006714421.1:n.-181+15812T>C
XM_006714359.1:c.-181+15812T>C XP_006714422.1:n.-181+15812T>C
XM_006714365.1:c.-181+15812T>C XP_006714428.1:n.-181+15812T>C
XM_006714366.1:c.-177+15812T>C XP_006714429.1:n.-177+15812T>C
XM_006714368.1:c.-181+15812T>C XP_006714431.1:n.-181+15812T>C
XM_006714369.1:c.-177+15812T>C XP_006714432.1:n.-177+15812T>C
XM_006714370.1:c.-181+15812T>C XP_006714433.1:n.-181+15812T>C
XM_006714371.1:c.-177+15812T>C XP_006714434.1:n.-177+15812T>C
XM_006714372.1:c.-181+15812T>C XP_006714435.1:n.-181+15812T>C
XM_006714373.1:c.-177+15812T>C XP_006714436.1:n.-177+15812T>C
XM_006714374.1:c.-181+15812T>C XP_006714437.1:n.-181+15812T>C
XM_006714375.1:c.-338+15812T>C XP_006714438.1:n.-338+15812T>C
XM_006714376.1:c.-334+15812T>C XP_006714439.1:n.-334+15812T>C
XM_006714377.1:c.-181+15812T>C XP_006714440.1:n.-181+15812T>C
XM_006714378.1:c.-269+15812T>C XP_006714441.1:n.-269+15812T>C
XM_006714379.1:c.-265+15812T>C XP_006714442.1:n.-265+15812T>C
XM_006714381.1:c.-181+15812T>C XP_006714444.1:n.-181+15812T>C
XM_006714388.1:c.-181+15812T>C XP_006714451.1:n.-181+15812T>C
XM_006714390.1:c.-181+15812T>C XP_006714453.1:n.-181+15812T>C
XM_011532362.1:c.-177+15812T>C XP_011530664.1:n.-177+15812T>C
XM_011532363.1:c.-237+15812T>C XP_011530665.1:n.-237+15812T>C
XM_011532364.1:c.-173+15812T>C XP_011530666.1:n.-173+15812T>C
XM_011532365.1:c.-181+15812T>C XP_011530667.1:n.-181+15812T>C
XM_011532366.1:c.-181+15812T>C XP_011530668.1:n.-181+15812T>C
XM_011532367.1:c.-181+15812T>C XP_011530669.1:n.-181+15812T>C
XM_011532368.1:c.-181+15812T>C XP_011530670.1:n.-181+15812T>C
XM_011532369.1:c.-177+15812T>C XP_011530671.1:n.-177+15812T>C
XM_011532370.1:c.-237+15812T>C XP_011530672.1:n.-237+15812T>C
XM_011532371.1:c.-181+15812T>C XP_011530673.1:n.-181+15812T>C
XM_011532372.1:c.-181+15812T>C XP_011530674.1:n.-181+15812T>C
XM_011532373.1:c.-181+15812T>C XP_011530675.1:n.-181+15812T>C
XM_011532374.1:c.-181+15812T>C XP_011530676.1:n.-181+15812T>C
XM_011532376.1:c.-374+15812T>C XP_011530678.1:n.-374+15812T>C
XM_011532377.1:c.-181+15812T>C XP_011530679.1:n.-181+15812T>C
XM_011532378.1:c.-233+15812T>C XP_011530680.1:n.-233+15812T>C
XM_011532379.1:c.-181+15812T>C XP_011530681.1:n.-181+15812T>C
XM_011532380.1:c.-181+15812T>C XP_011530682.1:n.-181+15812T>C
XM_011532382.1:c.-181+15812T>C XP_011530684.1:n.-181+15812T>C
XM_005263307.2:c.-181+15812T>C XP_005263364.1:n.-181+15812T>C
XM_005263308.2:c.-181+15812T>C XP_005263365.1:n.-181+15812T>C
XM_005263310.2:c.-181+15812T>C XP_005263367.1:n.-181+15812T>C
XM_005263311.2:c.-181+15812T>C XP_005263368.1:n.-181+15812T>C
XM_005263312.2:c.-181+15812T>C XP_005263369.1:n.-181+15812T>C
XM_005263313.2:c.-181+15812T>C XP_005263370.1:n.-181+15812T>C
XM_006714388.2:c.-181+15812T>C XP_006714451.1:n.-181+15812T>C
XM_006714390.2:c.-181+15812T>C XP_006714453.1:n.-181+15812T>C
XM_017008738.2:c.-181+15812T>C XP_016864227.1:n.-181+15812T>C
XM_017008739.2:c.-237+15812T>C XP_016864228.1:n.-237+15812T>C
XM_017008740.2:c.-177+15812T>C XP_016864229.1:n.-177+15812T>C
XM_017008741.2:c.-181+15812T>C XP_016864230.1:n.-181+15812T>C
XM_017008743.2:c.-181+15812T>C XP_016864232.1:n.-181+15812T>C
XM_017008744.2:c.-237+15812T>C XP_016864233.1:n.-237+15812T>C
XM_017008748.2:c.-181+15812T>C XP_016864237.1:n.-181+15812T>C
XM_017008750.2:c.-181+15812T>C XP_016864239.1:n.-181+15812T>C
XM_017008751.2:c.-181+15812T>C XP_016864240.1:n.-181+15812T>C
XM_017008752.2:c.-181+15812T>C XP_016864241.1:n.-181+15812T>C
XM_017008753.2:c.-181+15812T>C XP_016864242.1:n.-181+15812T>C
XM_017008754.2:c.-181+15812T>C XP_016864243.1:n.-181+15812T>C
XM_017008755.2:c.-177+15812T>C XP_016864244.1:n.-177+15812T>C
XM_017008756.2:c.-265+15812T>C XP_016864245.1:n.-265+15812T>C
XM_017008758.2:c.-173+15812T>C XP_016864247.1:n.-173+15812T>C
XM_017008759.2:c.-374+15812T>C XP_016864248.1:n.-374+15812T>C
XM_017008760.2:c.-181+15812T>C XP_016864249.1:n.-181+15812T>C
XM_017008761.2:c.-181+15812T>C XP_016864250.1:n.-181+15812T>C
XM_017008762.2:c.-181+15812T>C XP_016864251.1:n.-181+15812T>C
XM_017008763.2:c.-173+15812T>C XP_016864252.1:n.-173+15812T>C
XM_017008764.2:c.-181+15812T>C XP_016864253.1:n.-181+15812T>C
XM_017008765.2:c.-237+15812T>C XP_016864254.1:n.-237+15812T>C
XM_017008766.2:c.-181+15812T>C XP_016864255.1:n.-181+15812T>C
XM_017008767.2:c.-237+15812T>C XP_016864256.1:n.-237+15812T>C
XM_017008768.2:c.-173+15812T>C XP_016864257.1:n.-173+15812T>C
XM_017008769.2:c.-181+15812T>C XP_016864258.1:n.-181+15812T>C
XM_017008770.2:c.-181+15812T>C XP_016864259.1:n.-181+15812T>C
XM_017008771.2:c.-269+15812T>C XP_016864260.1:n.-269+15812T>C
XM_017008772.2:c.-181+15812T>C XP_016864261.1:n.-181+15812T>C
XM_017008773.2:c.-237+15812T>C XP_016864262.1:n.-237+15812T>C
XM_017008775.2:c.-181+15812T>C XP_016864264.1:n.-181+15812T>C
XM_024454257.1:c.-181+15812T>C XP_024310025.1:n.-181+15812T>C
XM_024454258.1:c.-233+15812T>C XP_024310026.1:n.-233+15812T>C
XM_024454259.1:c.-269+15812T>C XP_024310027.1:n.-269+15812T>C
XM_024454260.1:c.-181+15812T>C XP_024310028.1:n.-181+15812T>C
XR_002959769.1:n.552+15812T>C
NM_001270771.2:c.-180-20486T>C NP_001257700.1:n.-180-20486T>C
NM_021069.5:c.-337-20486T>C NP_066547.1:n.-337-20486T>C
NM_001145670.2:c.-219+15812T>C NP_001139142.1:n.-219+15812T>C
NM_001145671.3:c.-173+15086T>C NP_001139143.1:n.-173+15086T>C
NM_001145672.2:c.-41+14896T>C NP_001139144.1:n.-41+14896T>C
NM_001270771.3:c.-180-20486T>C NP_001257700.1:n.-180-20486T>C
NM_001394245.1:c.-173+15812T>C NP_001381174.1:n.-173+15812T>C
NM_001394246.1:c.-173+15812T>C NP_001381175.1:n.-173+15812T>C
NM_001394247.1:c.-169+15812T>C NP_001381176.1:n.-169+15812T>C
NM_001394248.1:c.-172-20486T>C NP_001381177.1:n.-172-20486T>C
NM_001394249.1:c.-173+15812T>C NP_001381178.1:n.-173+15812T>C
NM_001394250.1:c.-173+15812T>C NP_001381179.1:n.-173+15812T>C
NM_001394251.1:c.-181+15812T>C NP_001381180.1:n.-181+15812T>C
NM_001394252.1:c.-177+15812T>C NP_001381181.1:n.-177+15812T>C
NM_001394254.1:c.-269+15812T>C NP_001381183.1:n.-269+15812T>C
NM_001394255.1:c.-168-20486T>C NP_001381184.1:n.-168-20486T>C
NM_001394256.1:c.-173+15812T>C NP_001381185.1:n.-173+15812T>C
NM_001394257.1:c.-172-20486T>C NP_001381186.1:n.-172-20486T>C
NM_001394258.1:c.-338+15812T>C NP_001381187.1:n.-338+15812T>C
NM_001394259.1:c.-173+15812T>C NP_001381188.1:n.-173+15812T>C
NM_001394260.1:c.-219+15812T>C NP_001381189.1:n.-219+15812T>C
NM_001394262.1:c.-172-20486T>C NP_001381191.1:n.-172-20486T>C
NM_001394263.1:c.-173+15812T>C NP_001381192.1:n.-173+15812T>C
NM_001394264.1:c.-337-20486T>C NP_001381193.1:n.-337-20486T>C
NM_001394265.1:c.-181+15812T>C NP_001381194.1:n.-181+15812T>C
NM_001394266.1:c.-268-20486T>C NP_001381195.1:n.-268-20486T>C
NM_001394267.1:c.-268-20486T>C NP_001381196.1:n.-268-20486T>C
NM_001394268.1:c.-337-20486T>C NP_001381197.1:n.-337-20486T>C
NM_001394270.1:c.-265+15812T>C NP_001381199.1:n.-265+15812T>C
NM_001394271.1:c.-338+15812T>C NP_001381200.1:n.-338+15812T>C
NM_001394272.1:c.-269+15812T>C NP_001381201.1:n.-269+15812T>C
NM_001394274.1:c.-338+15812T>C NP_001381203.1:n.-338+15812T>C
NM_001394275.1:c.-269+15812T>C NP_001381204.1:n.-269+15812T>C
NM_001394276.1:c.-181+15812T>C NP_001381205.1:n.-181+15812T>C
NM_003603.7:c.-181+15812T>C NP_003594.3:n.-181+15812T>C
NM_021069.6:c.-337-20486T>C NP_066547.1:n.-337-20486T>C
NM_001395207.1:c.-237+15812T>C MANE Select NP_001382136.1:n.-237+15812T>C