Canonical Allele Identifier: CA386720587

Gene: SH2B3

Linked Data

• dbSNP Id: rs778186029
• gnomAD v4: 12-111418776-A-T
• MyVariant Identifiers: chr12:g.111856580A>T (hg19) ; chr12:g.111418776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418776A>T , CM000674.2:g.111418776A>T	GRCh38
NC_000012.11:g.111856580A>T , CM000674.1:g.111856580A>T	GRCh37
NC_000012.10:g.110340963A>T	NCBI36
NG_021216.1:g.17829A>T , LRG_621:g.17829A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.631A>T MANE Select	ENSP00000345492.2:p.Met211Leu
ENST00000341259.6:c.631A>T	ENSP00000345492.2:p.Met211Leu
ENST00000550925.2:c.437A>T
NM_005475.2:c.631A>T , LRG_621t1:c.631A>T	NP_005466.1:p.Met211Leu
XM_005253818.3:c.631A>T	XP_005253875.1:p.Met211Leu
XM_005253819.3:c.631A>T	XP_005253876.1:p.Met211Leu
XM_011537719.1:c.631A>T	XP_011536021.1:p.Met211Leu
XM_011537720.1:c.631A>T	XP_011536022.1:p.Met211Leu
XM_011537722.1:c.631A>T	XP_011536024.1:p.Met211Leu
XM_005253818.4:c.631A>T	XP_005253875.1:p.Met211Leu
XM_005253819.4:c.631A>T	XP_005253876.1:p.Met211Leu
XM_011537719.2:c.631A>T	XP_011536021.1:p.Met211Leu
XM_011537720.3:c.631A>T	XP_011536022.1:p.Met211Leu
XM_024448790.1:c.631A>T	XP_024304558.1:p.Met211Leu
XR_001748535.1:n.1032A>T
XR_001748536.1:n.1031A>T
XR_002957278.1:n.1028A>T
NM_005475.3:c.631A>T MANE Select	NP_005466.1:p.Met211Leu