Canonical Allele Identifier: CA680545621

Gene: GAB2

Linked Data

• dbSNP Id: rs1364737386
• gnomAD v3: 11-78342111-G-A
• gnomAD v4: 11-78342111-G-A
• MyVariant Identifiers: chr11:g.78053157G>A (hg19) ; chr11:g.78342111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78342111G>A , CM000673.2:g.78342111G>A	GRCh38
NC_000011.9:g.78053157G>A , CM000673.1:g.78053157G>A	GRCh37
NC_000011.8:g.77730805G>A	NCBI36
NG_016171.1:g.80712C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.76-61210C>T MANE Select	ENSP00000354952.4:n.76-61210C>T
ENST00000361507.4:c.76-61210C>T	ENSP00000354952.4:n.76-61210C>T
ENST00000526030.1:n.178-23892C>T
ENST00000528886.5:c.-39-61210C>T	ENSP00000433762.1:n.-39-61210C>T
ENST00000530915.1:c.-40+21905C>T	ENSP00000431868.1:n.-40+21905C>T
ENST00000534823.1:n.127-61210C>T
NM_080491.2:c.76-61210C>T	NP_536739.1:n.76-61210C>T
XM_006718753.1:c.-40+21905C>T	XP_006718816.1:n.-40+21905C>T
XM_006718753.2:c.-40+21905C>T	XP_006718816.1:n.-40+21905C>T
XM_024448782.1:c.21+12623C>T	XP_024304550.1:n.21+12623C>T
NM_080491.3:c.76-61210C>T MANE Select	NP_536739.1:n.76-61210C>T