Canonical Allele Identifier: CA2620933430

Gene: SH2B3

Linked Data

• gnomAD v4: 12-111418661-CCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418666_111418669del , CM000674.2:g.111418666_111418669del	GRCh38
NC_000012.11:g.111856470_111856473del , CM000674.1:g.111856470_111856473del	GRCh37
NC_000012.10:g.110340853_110340856del	NCBI36
NG_021216.1:g.17719_17722del , LRG_621:g.17719_17722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.521_524del MANE Select	ENSP00000345492.2:p.Ala174GlyfsTer22
ENST00000341259.6:c.521_524del	ENSP00000345492.2:p.Ala174GlyfsTer22
ENST00000550925.2:c.327_330del
NM_005475.2:c.521_524del , LRG_621t1:c.521_524del	NP_005466.1:p.Ala174GlyfsTer22
XM_005253818.3:c.521_524del	XP_005253875.1:p.Ala174GlyfsTer22
XM_005253819.3:c.521_524del	XP_005253876.1:p.Ala174GlyfsTer22
XM_011537719.1:c.521_524del	XP_011536021.1:p.Ala174GlyfsTer22
XM_011537720.1:c.521_524del	XP_011536022.1:p.Ala174GlyfsTer22
XM_011537722.1:c.521_524del	XP_011536024.1:p.Ala174GlyfsTer22
XM_005253818.4:c.521_524del	XP_005253875.1:p.Ala174GlyfsTer22
XM_005253819.4:c.521_524del	XP_005253876.1:p.Ala174GlyfsTer22
XM_011537719.2:c.521_524del	XP_011536021.1:p.Ala174GlyfsTer22
XM_011537720.3:c.521_524del	XP_011536022.1:p.Ala174GlyfsTer22
XM_024448790.1:c.521_524del	XP_024304558.1:p.Ala174GlyfsTer22
XR_001748535.1:n.922_925del
XR_001748536.1:n.921_924del
XR_002957278.1:n.918_921del
NM_005475.3:c.521_524del MANE Select	NP_005466.1:p.Ala174GlyfsTer22