Canonical Allele Identifier: CA2830535350

Gene: SORBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185651995T>A , CM000666.2:g.185651995T>A	GRCh38
NC_000004.11:g.186573149T>A , CM000666.1:g.186573149T>A	GRCh37
NC_000004.10:g.186810143T>A	NCBI36
NG_029709.1:g.309722A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421420.6:c.1751-167A>T	ENSP00000393258.2:n.1751-167A>T
ENST00000451974.6:c.542-167A>T	ENSP00000401818.2:n.542-167A>T
ENST00000487184.2:c.335-167A>T	ENSP00000511890.1:n.335-167A>T
ENST00000487836.6:c.91+667A>T	ENSP00000511887.1:n.91+667A>T
ENST00000490562.6:c.92-167A>T	ENSP00000511889.1:n.92-167A>T
ENST00000498125.6:c.91+667A>T	ENSP00000511892.1:n.91+667A>T
ENST00000695409.1:c.635-167A>T MANE Select	ENSP00000511888.1:n.635-167A>T
ENST00000695410.1:c.335-167A>T	ENSP00000511891.1:n.335-167A>T
ENST00000695411.1:c.593-167A>T	ENSP00000511893.1:n.593-167A>T
ENST00000698538.1:n.780-167A>T
ENST00000698539.1:c.92-167A>T	ENSP00000513784.1:n.92-167A>T
ENST00000698540.1:c.872-167A>T	ENSP00000513785.1:n.872-167A>T
ENST00000698843.1:c.1067-167A>T	ENSP00000513979.1:n.1067-167A>T
ENST00000706921.1:c.872-167A>T	ENSP00000516628.1:n.872-167A>T
ENST00000284776.11:c.335-167A>T	ENSP00000284776.7:n.335-167A>T
ENST00000319454.10:c.473-167A>T	ENSP00000321983.6:n.473-167A>T
ENST00000319471.13:c.593-167A>T	ENSP00000322182.9:n.593-167A>T
ENST00000355634.9:c.635-167A>T	ENSP00000347852.5:n.635-167A>T
ENST00000393528.7:c.473-167A>T	ENSP00000377162.3:n.473-167A>T
ENST00000418609.5:c.91+667A>T	ENSP00000397482.1:n.91+667A>T
ENST00000437304.6:c.872-167A>T	ENSP00000396008.2:n.872-167A>T
ENST00000438278.5:c.165-167A>T
ENST00000445625.1:c.28-167A>T
ENST00000448662.6:c.542-167A>T	ENSP00000409158.2:n.542-167A>T
ENST00000449407.6:c.592+667A>T	ENSP00000397262.2:n.592+667A>T
ENST00000466289.5:n.188-167A>T
ENST00000470685.5:n.1390-167A>T
ENST00000476311.5:n.177+667A>T
ENST00000485380.5:n.133+667A>T
ENST00000487836.5:n.199+667A>T
ENST00000490562.5:n.194-167A>T
ENST00000490779.5:n.191-167A>T
ENST00000492104.5:n.421-167A>T
ENST00000492810.5:n.197-167A>T
ENST00000494140.1:n.188-167A>T
ENST00000495932.5:n.137+667A>T
ENST00000498125.5:n.422+667A>T
NM_001145670.1:c.592+667A>T	NP_001139142.1:n.592+667A>T
NM_001145671.2:c.593-167A>T	NP_001139143.1:n.593-167A>T
NM_001145672.1:c.542-167A>T	NP_001139144.1:n.542-167A>T
NM_001145673.1:c.872-167A>T	NP_001139145.1:n.872-167A>T
NM_001145674.1:c.91+667A>T	NP_001139146.1:n.91+667A>T
NM_001145675.1:c.92-167A>T	NP_001139147.1:n.92-167A>T
NM_001270771.1:c.635-167A>T	NP_001257700.1:n.635-167A>T
NM_003603.6:c.473-167A>T	NP_003594.3:n.473-167A>T
NM_021069.4:c.335-167A>T	NP_066547.1:n.335-167A>T
XM_005263307.1:c.1277-167A>T	XP_005263364.1:n.1277-167A>T
XM_005263308.1:c.635-167A>T	XP_005263365.1:n.635-167A>T
XM_005263310.1:c.566-167A>T	XP_005263367.1:n.566-167A>T
XM_005263311.1:c.635-167A>T	XP_005263368.1:n.635-167A>T
XM_005263312.1:c.473-167A>T	XP_005263369.1:n.473-167A>T
XM_005263313.1:c.634+667A>T	XP_005263370.1:n.634+667A>T
XM_006714358.1:c.1313-167A>T	XP_006714421.1:n.1313-167A>T
XM_006714359.1:c.1277-167A>T	XP_006714422.1:n.1277-167A>T
XM_006714365.1:c.635-167A>T	XP_006714428.1:n.635-167A>T
XM_006714366.1:c.635-167A>T	XP_006714429.1:n.635-167A>T
XM_006714368.1:c.566-167A>T	XP_006714431.1:n.566-167A>T
XM_006714369.1:c.566-167A>T	XP_006714432.1:n.566-167A>T
XM_006714370.1:c.542-167A>T	XP_006714433.1:n.542-167A>T
XM_006714371.1:c.542-167A>T	XP_006714434.1:n.542-167A>T
XM_006714372.1:c.473-167A>T	XP_006714435.1:n.473-167A>T
XM_006714373.1:c.473-167A>T	XP_006714436.1:n.473-167A>T
XM_006714374.1:c.635-167A>T	XP_006714437.1:n.635-167A>T
XM_006714375.1:c.335-167A>T	XP_006714438.1:n.335-167A>T
XM_006714376.1:c.335-167A>T	XP_006714439.1:n.335-167A>T
XM_006714377.1:c.635-167A>T	XP_006714440.1:n.635-167A>T
XM_006714378.1:c.335-167A>T	XP_006714441.1:n.335-167A>T
XM_006714379.1:c.335-167A>T	XP_006714442.1:n.335-167A>T
XM_006714381.1:c.634+667A>T	XP_006714444.1:n.634+667A>T
XM_006714383.2:c.92-167A>T	XP_006714446.1:n.92-167A>T
XM_006714388.1:c.566-167A>T	XP_006714451.1:n.566-167A>T
XM_006714390.1:c.542-167A>T	XP_006714453.1:n.542-167A>T
XM_011532362.1:c.1313-167A>T	XP_011530664.1:n.1313-167A>T
XM_011532363.1:c.1313-167A>T	XP_011530665.1:n.1313-167A>T
XM_011532364.1:c.1271-167A>T	XP_011530666.1:n.1271-167A>T
XM_011532365.1:c.1312+667A>T	XP_011530667.1:n.1312+667A>T
XM_011532366.1:c.1244-167A>T	XP_011530668.1:n.1244-167A>T
XM_011532367.1:c.1313-167A>T	XP_011530669.1:n.1313-167A>T
XM_011532368.1:c.1220-167A>T	XP_011530670.1:n.1220-167A>T
XM_011532369.1:c.1220-167A>T	XP_011530671.1:n.1220-167A>T
XM_011532370.1:c.1220-167A>T	XP_011530672.1:n.1220-167A>T
XM_011532371.1:c.1313-167A>T	XP_011530673.1:n.1313-167A>T
XM_011532372.1:c.1151-167A>T	XP_011530674.1:n.1151-167A>T
XM_011532373.1:c.1313-167A>T	XP_011530675.1:n.1313-167A>T
XM_011532374.1:c.1313-167A>T	XP_011530676.1:n.1313-167A>T
XM_011532375.1:c.908-167A>T	XP_011530677.1:n.908-167A>T
XM_011532376.1:c.908-167A>T	XP_011530678.1:n.908-167A>T
XM_011532377.1:c.1313-167A>T	XP_011530679.1:n.1313-167A>T
XM_011532378.1:c.473-167A>T	XP_011530680.1:n.473-167A>T
XM_011532379.1:c.1313-167A>T	XP_011530681.1:n.1313-167A>T
XM_011532380.1:c.1313-167A>T	XP_011530682.1:n.1313-167A>T
XM_011532381.1:c.506-167A>T	XP_011530683.1:n.506-167A>T
XM_011532382.1:c.1312+667A>T	XP_011530684.1:n.1312+667A>T
XM_005263307.2:c.1277-167A>T	XP_005263364.1:n.1277-167A>T
XM_005263308.2:c.635-167A>T	XP_005263365.1:n.635-167A>T
XM_005263310.2:c.566-167A>T	XP_005263367.1:n.566-167A>T
XM_005263311.2:c.635-167A>T	XP_005263368.1:n.635-167A>T
XM_005263312.2:c.473-167A>T	XP_005263369.1:n.473-167A>T
XM_005263313.2:c.634+667A>T	XP_005263370.1:n.634+667A>T
XM_006714388.2:c.566-167A>T	XP_006714451.1:n.566-167A>T
XM_006714390.2:c.542-167A>T	XP_006714453.1:n.542-167A>T
XM_017008738.2:c.1751-167A>T	XP_016864227.1:n.1751-167A>T
XM_017008739.2:c.1751-167A>T	XP_016864228.1:n.1751-167A>T
XM_017008740.2:c.1751-167A>T	XP_016864229.1:n.1751-167A>T
XM_017008741.2:c.1751-167A>T	XP_016864230.1:n.1751-167A>T
XM_017008743.2:c.1682-167A>T	XP_016864232.1:n.1682-167A>T
XM_017008744.2:c.1658-167A>T	XP_016864233.1:n.1658-167A>T
XM_017008748.2:c.1751-167A>T	XP_016864237.1:n.1751-167A>T
XM_017008750.2:c.1751-167A>T	XP_016864239.1:n.1751-167A>T
XM_017008751.2:c.1751-167A>T	XP_016864240.1:n.1751-167A>T
XM_017008752.2:c.1751-167A>T	XP_016864241.1:n.1751-167A>T
XM_017008753.2:c.1751-167A>T	XP_016864242.1:n.1751-167A>T
XM_017008754.2:c.1750+667A>T	XP_016864243.1:n.1750+667A>T
XM_017008755.2:c.473-167A>T	XP_016864244.1:n.473-167A>T
XM_017008756.2:c.335-167A>T	XP_016864245.1:n.335-167A>T
XM_017008757.1:c.91+667A>T	XP_016864246.1:n.91+667A>T
XM_017008758.2:c.593-167A>T	XP_016864247.1:n.593-167A>T
XM_017008759.2:c.872-167A>T	XP_016864248.1:n.872-167A>T
XM_017008760.2:c.542-167A>T	XP_016864249.1:n.542-167A>T
XM_017008761.2:c.1751-167A>T	XP_016864250.1:n.1751-167A>T
XM_017008762.2:c.635-167A>T	XP_016864251.1:n.635-167A>T
XM_017008763.2:c.593-167A>T	XP_016864252.1:n.593-167A>T
XM_017008764.2:c.566-167A>T	XP_016864253.1:n.566-167A>T
XM_017008765.2:c.566-167A>T	XP_016864254.1:n.566-167A>T
XM_017008766.2:c.542-167A>T	XP_016864255.1:n.542-167A>T
XM_017008767.2:c.542-167A>T	XP_016864256.1:n.542-167A>T
XM_017008768.2:c.524-167A>T	XP_016864257.1:n.524-167A>T
XM_017008769.2:c.565+667A>T	XP_016864258.1:n.565+667A>T
XM_017008770.2:c.541+667A>T	XP_016864259.1:n.541+667A>T
XM_017008771.2:c.335-167A>T	XP_016864260.1:n.335-167A>T
XM_017008772.2:c.473-167A>T	XP_016864261.1:n.473-167A>T
XM_017008773.2:c.473-167A>T	XP_016864262.1:n.473-167A>T
XM_017008774.2:c.92-167A>T	XP_016864263.1:n.92-167A>T
XM_017008775.2:c.1750+667A>T	XP_016864264.1:n.1750+667A>T
XM_024454257.1:c.1751-167A>T	XP_024310025.1:n.1751-167A>T
XM_024454258.1:c.473-167A>T	XP_024310026.1:n.473-167A>T
XM_024454259.1:c.335-167A>T	XP_024310027.1:n.335-167A>T
XM_024454260.1:c.473-167A>T	XP_024310028.1:n.473-167A>T
XR_002959769.1:n.3292-167A>T
NM_001145673.2:c.872-167A>T	NP_001139145.1:n.872-167A>T
NM_001145675.2:c.92-167A>T	NP_001139147.1:n.92-167A>T
NM_001270771.2:c.635-167A>T	NP_001257700.1:n.635-167A>T
NM_021069.5:c.335-167A>T	NP_066547.1:n.335-167A>T
NM_001145670.2:c.592+667A>T	NP_001139142.1:n.592+667A>T
NM_001145671.3:c.593-167A>T	NP_001139143.1:n.593-167A>T
NM_001145672.2:c.542-167A>T	NP_001139144.1:n.542-167A>T
NM_001145673.3:c.872-167A>T	NP_001139145.1:n.872-167A>T
NM_001145674.3:c.91+667A>T	NP_001139146.1:n.91+667A>T
NM_001145675.3:c.92-167A>T	NP_001139147.1:n.92-167A>T
NM_001270771.3:c.635-167A>T	NP_001257700.1:n.635-167A>T
NM_001394245.1:c.593-167A>T	NP_001381174.1:n.593-167A>T
NM_001394246.1:c.593-167A>T	NP_001381175.1:n.593-167A>T
NM_001394247.1:c.593-167A>T	NP_001381176.1:n.593-167A>T
NM_001394248.1:c.524-167A>T	NP_001381177.1:n.524-167A>T
NM_001394249.1:c.524-167A>T	NP_001381178.1:n.524-167A>T
NM_001394250.1:c.593-167A>T	NP_001381179.1:n.593-167A>T
NM_001394251.1:c.635-167A>T	NP_001381180.1:n.635-167A>T
NM_001394252.1:c.635-167A>T	NP_001381181.1:n.635-167A>T
NM_001394253.1:c.635-167A>T	NP_001381182.1:n.635-167A>T
NM_001394254.1:c.335-167A>T	NP_001381183.1:n.335-167A>T
NM_001394255.1:c.593-167A>T	NP_001381184.1:n.593-167A>T
NM_001394256.1:c.593-167A>T	NP_001381185.1:n.593-167A>T
NM_001394257.1:c.593-167A>T	NP_001381186.1:n.593-167A>T
NM_001394258.1:c.335-167A>T	NP_001381187.1:n.335-167A>T
NM_001394259.1:c.592+667A>T	NP_001381188.1:n.592+667A>T
NM_001394260.1:c.592+667A>T	NP_001381189.1:n.592+667A>T
NM_001394261.1:c.542-167A>T	NP_001381190.1:n.542-167A>T
NM_001394262.1:c.524-167A>T	NP_001381191.1:n.524-167A>T
NM_001394263.1:c.524-167A>T	NP_001381192.1:n.524-167A>T
NM_001394264.1:c.334+667A>T	NP_001381193.1:n.334+667A>T
NM_001394265.1:c.472+667A>T	NP_001381194.1:n.472+667A>T
NM_001394266.1:c.335-167A>T	NP_001381195.1:n.335-167A>T
NM_001394267.1:c.335-167A>T	NP_001381196.1:n.335-167A>T
NM_001394268.1:c.335-167A>T	NP_001381197.1:n.335-167A>T
NM_001394270.1:c.335-167A>T	NP_001381199.1:n.335-167A>T
NM_001394271.1:c.335-167A>T	NP_001381200.1:n.335-167A>T
NM_001394272.1:c.335-167A>T	NP_001381201.1:n.335-167A>T
NM_001394273.1:c.92-167A>T	NP_001381202.1:n.92-167A>T
NM_001394274.1:c.334+667A>T	NP_001381203.1:n.334+667A>T
NM_001394275.1:c.334+667A>T	NP_001381204.1:n.334+667A>T
NM_001394276.1:c.1589-167A>T	NP_001381205.1:n.1589-167A>T
NM_001394277.1:c.92-167A>T	NP_001381206.1:n.92-167A>T
NM_003603.7:c.473-167A>T	NP_003594.3:n.473-167A>T
NM_021069.6:c.335-167A>T	NP_066547.1:n.335-167A>T
NM_001395207.1:c.635-167A>T MANE Select	NP_001382136.1:n.635-167A>T