Canonical Allele Identifier: CA680509990

Gene: GAB2

Linked Data

• dbSNP Id: rs1227818713
• gnomAD v3: 11-78286917-A-G
• gnomAD v4: 11-78286917-A-G
• MyVariant Identifiers: chr11:g.77997963A>G (hg19) ; chr11:g.78286917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78286917A>G , CM000673.2:g.78286917A>G	GRCh38
NC_000011.9:g.77997963A>G , CM000673.1:g.77997963A>G	GRCh37
NC_000011.8:g.77675611A>G	NCBI36
NG_016171.1:g.135906T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.76-6016T>C MANE Select	ENSP00000354952.4:n.76-6016T>C
ENST00000340149.6:c.-39-6016T>C	ENSP00000343959.2:n.-39-6016T>C
ENST00000361507.4:c.76-6016T>C	ENSP00000354952.4:n.76-6016T>C
ENST00000526030.1:n.255-6016T>C
ENST00000528886.5:c.-39-6016T>C	ENSP00000433762.1:n.-39-6016T>C
ENST00000530915.1:c.-39-6016T>C	ENSP00000431868.1:n.-39-6016T>C
ENST00000534823.1:n.127-6016T>C
NM_012296.3:c.-39-6016T>C	NP_036428.1:n.-39-6016T>C
NM_080491.2:c.76-6016T>C	NP_536739.1:n.76-6016T>C
XM_006718753.1:c.-39-6016T>C	XP_006718816.1:n.-39-6016T>C
XM_011545408.1:c.-341-6016T>C	XP_011543710.1:n.-341-6016T>C
XM_006718753.2:c.-39-6016T>C	XP_006718816.1:n.-39-6016T>C
XM_011545408.3:c.-341-6016T>C	XP_011543710.1:n.-341-6016T>C
XM_024448782.1:c.22-6016T>C	XP_024304550.1:n.22-6016T>C
NM_080491.3:c.76-6016T>C MANE Select	NP_536739.1:n.76-6016T>C
NM_012296.4:c.-39-6016T>C	NP_036428.1:n.-39-6016T>C