Canonical Allele Identifier: CA14217687
Gene: SH2B1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.28862077G>A
GRCh37 chr16:g.28873398G>A
gnomAD v2:
16:28873398 G / A
gnomAD v3:
16:28862077 G / A
gnomAD v4:
chr16-28862077-G-A
Joint Max Group AF 0.39767169 (AMR)
Genomes Max Group AF 0.39767169 (AMR)
Exomes Max Group AF 0.06814 (NFE)
dbSNP:
4788102
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28862077G>A , CM000678.2:g.28862077G>A GRCh38
NC_000016.9:g.28873398G>A , CM000678.1:g.28873398G>A GRCh37
NC_000016.8:g.28780899G>A NCBI36
NG_029706.2:g.20478G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322610.12:c.-171+330G>A ENSP00000321221.7:n.-171+330G>A
ENST00000563591.5:c.-170-1591G>A ENSP00000458097.1:n.-170-1591G>A
ENST00000567536.5:c.-116+330G>A ENSP00000455236.1:n.-116+330G>A
NM_001308293.1:c.-171+330G>A NP_001295222.1:n.-171+330G>A
XM_006721032.2:c.-170-1591G>A XP_006721095.1:n.-170-1591G>A
XM_006721033.2:c.-171+330G>A XP_006721096.1:n.-171+330G>A
XM_017023115.1:c.-170-1591G>A XP_016878604.1:n.-170-1591G>A
NM_001308293.2:c.-171+330G>A NP_001295222.1:n.-171+330G>A
NM_001387404.1:c.-170-1591G>A NP_001374333.1:n.-170-1591G>A
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