Canonical Allele Identifier: CA243602885

Gene: SH2B3

Linked Data

• dbSNP Id: rs975841955
• gnomAD v4: 12-111418777-T-C
• MyVariant Identifiers: chr12:g.111856581T>C (hg19) ; chr12:g.111418777T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418777T>C , CM000674.2:g.111418777T>C	GRCh38
NC_000012.11:g.111856581T>C , CM000674.1:g.111856581T>C	GRCh37
NC_000012.10:g.110340964T>C	NCBI36
NG_021216.1:g.17830T>C , LRG_621:g.17830T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341259.7:c.632T>C MANE Select	ENSP00000345492.2:p.Met211Thr
ENST00000341259.6:c.632T>C	ENSP00000345492.2:p.Met211Thr
ENST00000550925.2:c.438T>C
NM_005475.2:c.632T>C , LRG_621t1:c.632T>C	NP_005466.1:p.Met211Thr
XM_005253818.3:c.632T>C	XP_005253875.1:p.Met211Thr
XM_005253819.3:c.632T>C	XP_005253876.1:p.Met211Thr
XM_011537719.1:c.632T>C	XP_011536021.1:p.Met211Thr
XM_011537720.1:c.632T>C	XP_011536022.1:p.Met211Thr
XM_011537722.1:c.632T>C	XP_011536024.1:p.Met211Thr
XM_005253818.4:c.632T>C	XP_005253875.1:p.Met211Thr
XM_005253819.4:c.632T>C	XP_005253876.1:p.Met211Thr
XM_011537719.2:c.632T>C	XP_011536021.1:p.Met211Thr
XM_011537720.3:c.632T>C	XP_011536022.1:p.Met211Thr
XM_024448790.1:c.632T>C	XP_024304558.1:p.Met211Thr
XR_001748535.1:n.1033T>C
XR_001748536.1:n.1032T>C
XR_002957278.1:n.1029T>C
NM_005475.3:c.632T>C MANE Select	NP_005466.1:p.Met211Thr