Canonical Allele Identifier: CA277027
Gene: STAMBP HGNC NCBI

Linked Data

ClinVar Variation Id: 212320
ClinVar RCV Id: RCV000192826
dbSNP Id: rs797046015
MyVariant Identifiers: chr2:g.74087173T>G (hg19) chr2:g.73860046T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73860046T>G , CM000664.2:g.73860046T>G GRCh38
NC_000002.11:g.74087173T>G , CM000664.1:g.74087173T>G GRCh37
NC_000002.10:g.73940681T>G NCBI36
NG_033223.1:g.36131T>G
NG_033223.2:g.36136T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394073.6:c.1119-6T>G ENSP00000377636.1:n.1119-6T>G
ENST00000409707.6:c.1119-6T>G ENSP00000386548.1:n.1119-6T>G
ENST00000478946.2:c.*880-6T>G ENSP00000508259.1:n.*880-6T>G
ENST00000486458.2:n.1537-6T>G
ENST00000536064.2:c.1029-6T>G ENSP00000443502.2:n.1029-6T>G
ENST00000682157.1:c.1119-6T>G ENSP00000507848.1:n.1119-6T>G
ENST00000682271.1:n.1176-6T>G
ENST00000682329.1:n.2797-6T>G
ENST00000682351.1:c.1119-6T>G ENSP00000506833.1:n.1119-6T>G
ENST00000682352.1:c.1029-6T>G ENSP00000508197.1:n.1029-6T>G
ENST00000682379.1:c.1119-6T>G ENSP00000507081.1:n.1119-6T>G
ENST00000682387.1:c.*399-6T>G ENSP00000508186.1:n.*399-6T>G
ENST00000682423.1:c.1119-6T>G ENSP00000507643.1:n.1119-6T>G
ENST00000682558.1:c.1119-6T>G ENSP00000507014.1:n.1119-6T>G
ENST00000682592.1:c.*1055-6T>G ENSP00000508170.1:n.*1055-6T>G
ENST00000682683.1:n.2797-6T>G
ENST00000682747.1:n.3223-6T>G
ENST00000682784.1:c.*880-6T>G ENSP00000507523.1:n.*880-6T>G
ENST00000682799.1:c.1119-6T>G ENSP00000507089.1:n.1119-6T>G
ENST00000682847.1:c.1119-6T>G ENSP00000507864.1:n.1119-6T>G
ENST00000682848.1:c.1029-6T>G ENSP00000506775.1:n.1029-6T>G
ENST00000682851.1:c.714-6T>G ENSP00000507371.1:n.714-6T>G
ENST00000683016.1:c.*1055-6T>G ENSP00000508373.1:n.*1055-6T>G
ENST00000683027.1:n.2930-6T>G
ENST00000683036.1:c.1119-6T>G ENSP00000507639.1:n.1119-6T>G
ENST00000683149.1:c.*308-6T>G ENSP00000507540.1:n.*308-6T>G
ENST00000683205.1:n.3262-6T>G
ENST00000683247.1:c.*241-6T>G ENSP00000507237.1:n.*241-6T>G
ENST00000683304.1:c.*308-6T>G ENSP00000508114.1:n.*308-6T>G
ENST00000683314.1:n.1243-6T>G
ENST00000683317.1:c.1119-6T>G ENSP00000507092.1:n.1119-6T>G
ENST00000683349.1:c.1119-6T>G ENSP00000507807.1:n.1119-6T>G
ENST00000683391.1:c.1110-6T>G ENSP00000506772.1:n.1110-6T>G
ENST00000683417.1:c.*308-6T>G ENSP00000507770.1:n.*308-6T>G
ENST00000683434.1:c.1116-6T>G ENSP00000507622.1:n.1116-6T>G
ENST00000683465.1:n.1942-6T>G
ENST00000683518.1:c.1119-6T>G ENSP00000506865.1:n.1119-6T>G
ENST00000683530.1:c.1006-6T>G ENSP00000506920.1:n.1006-6T>G
ENST00000683582.1:c.*880-6T>G ENSP00000506892.1:n.*880-6T>G
ENST00000683594.1:c.*971-6T>G ENSP00000507459.1:n.*971-6T>G
ENST00000683718.1:c.*880-6T>G ENSP00000507037.1:n.*880-6T>G
ENST00000683728.1:c.*880-6T>G ENSP00000507079.1:n.*880-6T>G
ENST00000683818.1:c.1119-6T>G ENSP00000507658.1:n.1119-6T>G
ENST00000683852.1:c.1119-6T>G ENSP00000507717.1:n.1119-6T>G
ENST00000683877.1:c.1152-6T>G ENSP00000507446.1:n.1152-6T>G
ENST00000683902.1:c.1110-6T>G ENSP00000507096.1:n.1110-6T>G
ENST00000683928.1:c.*308-6T>G ENSP00000507241.1:n.*308-6T>G
ENST00000684095.1:c.1119-6T>G ENSP00000506845.1:n.1119-6T>G
ENST00000684174.1:n.3546-6T>G
ENST00000684200.1:c.*1055-6T>G ENSP00000507468.1:n.*1055-6T>G
ENST00000684312.1:c.1119-6T>G ENSP00000506958.1:n.1119-6T>G
ENST00000684321.1:c.1119-6T>G ENSP00000507156.1:n.1119-6T>G
ENST00000684337.1:c.*880-6T>G ENSP00000508310.1:n.*880-6T>G
ENST00000684355.1:c.489-6T>G ENSP00000507974.1:n.489-6T>G
ENST00000684426.1:c.*699-6T>G ENSP00000507614.1:n.*699-6T>G
ENST00000684585.1:c.1119-6T>G ENSP00000507054.1:n.1119-6T>G
ENST00000684671.1:c.*2466-6T>G ENSP00000507882.1:n.*2466-6T>G
ENST00000684697.1:c.*308-6T>G ENSP00000506855.1:n.*308-6T>G
ENST00000684703.1:c.*880-6T>G ENSP00000507569.1:n.*880-6T>G
ENST00000684716.1:c.1119-6T>G ENSP00000508172.1:n.1119-6T>G
ENST00000684758.1:c.*1055-6T>G ENSP00000507279.1:n.*1055-6T>G
ENST00000684774.1:c.*880-6T>G ENSP00000508267.1:n.*880-6T>G
ENST00000394070.7:c.1119-6T>G MANE Select ENSP00000377633.2:n.1119-6T>G
ENST00000339566.7:c.1119-6T>G ENSP00000344742.3:n.1119-6T>G
ENST00000394070.6:c.1119-6T>G ENSP00000377633.2:n.1119-6T>G
ENST00000394073.5:c.1119-6T>G ENSP00000377636.1:n.1119-6T>G
ENST00000409707.5:c.1119-6T>G ENSP00000386548.1:n.1119-6T>G
ENST00000486458.1:n.253-6T>G
NM_006463.4:c.1119-6T>G NP_006454.1:n.1119-6T>G
NM_201647.2:c.1119-6T>G NP_964010.1:n.1119-6T>G
NM_213622.2:c.1119-6T>G NP_998787.1:n.1119-6T>G
XM_005264088.2:c.1119-6T>G XP_005264145.1:n.1119-6T>G
XM_005264091.2:c.714-6T>G XP_005264148.1:n.714-6T>G
XM_011532483.1:c.1119-6T>G XP_011530785.1:n.1119-6T>G
XM_011532484.1:c.1119-6T>G XP_011530786.1:n.1119-6T>G
XR_939651.1:n.1237-6T>G
NM_001353967.1:c.1119-6T>G NP_001340896.1:n.1119-6T>G
NM_001353968.1:c.1119-6T>G NP_001340897.1:n.1119-6T>G
NM_001353969.1:c.1119-6T>G NP_001340898.1:n.1119-6T>G
NM_001353970.1:c.1119-6T>G NP_001340899.1:n.1119-6T>G
NM_001353971.1:c.714-6T>G NP_001340900.1:n.714-6T>G
NM_001353972.1:c.714-6T>G NP_001340901.1:n.714-6T>G
NM_001353973.1:c.714-6T>G NP_001340902.1:n.714-6T>G
NM_001353974.1:c.714-6T>G NP_001340903.1:n.714-6T>G
NM_001353975.1:c.714-6T>G NP_001340904.1:n.714-6T>G
NM_001353976.1:c.714-6T>G NP_001340905.1:n.714-6T>G
NM_006463.5:c.1119-6T>G NP_006454.1:n.1119-6T>G
NM_201647.3:c.1119-6T>G NP_964010.1:n.1119-6T>G
NM_213622.3:c.1119-6T>G NP_998787.1:n.1119-6T>G
NR_148668.1:n.1217-6T>G
NR_148669.1:n.1217-6T>G
NR_148670.1:n.1341-6T>G
NR_148671.1:n.1675-6T>G
XM_011532483.3:c.1119-6T>G XP_011530785.1:n.1119-6T>G
XM_024452533.1:c.1119-6T>G XP_024308301.1:n.1119-6T>G
XM_024452534.1:c.714-6T>G XP_024308302.1:n.714-6T>G
NM_213622.4:c.1119-6T>G MANE Select NP_998787.1:n.1119-6T>G
NR_148668.2:n.1167-6T>G
NR_148669.2:n.1167-6T>G
NR_148670.2:n.1347-6T>G
NR_148671.2:n.1681-6T>G
NM_001353967.2:c.1119-6T>G NP_001340896.1:n.1119-6T>G
NM_001353968.2:c.1119-6T>G NP_001340897.1:n.1119-6T>G
NM_001353969.2:c.1119-6T>G NP_001340898.1:n.1119-6T>G
NM_001353970.2:c.1119-6T>G NP_001340899.1:n.1119-6T>G
NM_001353971.2:c.714-6T>G NP_001340900.1:n.714-6T>G
NM_001353972.2:c.714-6T>G NP_001340901.1:n.714-6T>G
NM_001353973.2:c.714-6T>G NP_001340902.1:n.714-6T>G
NM_001353974.2:c.714-6T>G NP_001340903.1:n.714-6T>G
NM_001353975.2:c.714-6T>G NP_001340904.1:n.714-6T>G
NM_001353976.2:c.714-6T>G NP_001340905.1:n.714-6T>G
NM_006463.6:c.1119-6T>G NP_006454.1:n.1119-6T>G
NM_201647.4:c.1119-6T>G NP_964010.1:n.1119-6T>G
Search 100 bp 5'
Search 100 bp 3'