Canonical Allele Identifier: CA386720583

Gene: SH2B3

Linked Data

• gnomAD v4: 12-111418774-C-T
• MyVariant Identifiers: chr12:g.111856578C>T (hg19) ; chr12:g.111418774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418774C>T , CM000674.2:g.111418774C>T	GRCh38
NC_000012.11:g.111856578C>T , CM000674.1:g.111856578C>T	GRCh37
NC_000012.10:g.110340961C>T	NCBI36
NG_021216.1:g.17827C>T , LRG_621:g.17827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.629C>T MANE Select	ENSP00000345492.2:p.Ser210Phe
ENST00000341259.6:c.629C>T	ENSP00000345492.2:p.Ser210Phe
ENST00000550925.2:c.435C>T
NM_005475.2:c.629C>T , LRG_621t1:c.629C>T	NP_005466.1:p.Ser210Phe
XM_005253818.3:c.629C>T	XP_005253875.1:p.Ser210Phe
XM_005253819.3:c.629C>T	XP_005253876.1:p.Ser210Phe
XM_011537719.1:c.629C>T	XP_011536021.1:p.Ser210Phe
XM_011537720.1:c.629C>T	XP_011536022.1:p.Ser210Phe
XM_011537722.1:c.629C>T	XP_011536024.1:p.Ser210Phe
XM_005253818.4:c.629C>T	XP_005253875.1:p.Ser210Phe
XM_005253819.4:c.629C>T	XP_005253876.1:p.Ser210Phe
XM_011537719.2:c.629C>T	XP_011536021.1:p.Ser210Phe
XM_011537720.3:c.629C>T	XP_011536022.1:p.Ser210Phe
XM_024448790.1:c.629C>T	XP_024304558.1:p.Ser210Phe
XR_001748535.1:n.1030C>T
XR_001748536.1:n.1029C>T
XR_002957278.1:n.1026C>T
NM_005475.3:c.629C>T MANE Select	NP_005466.1:p.Ser210Phe