Canonical Allele Identifier: CA680509199

Gene: GAB2

Linked Data

• dbSNP Id: rs1354551591
• gnomAD v3: 11-78285309-G-C
• gnomAD v4: 11-78285309-G-C
• MyVariant Identifiers: chr11:g.77996355G>C (hg19) ; chr11:g.78285309G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78285309G>C , CM000673.2:g.78285309G>C	GRCh38
NC_000011.9:g.77996355G>C , CM000673.1:g.77996355G>C	GRCh37
NC_000011.8:g.77674003G>C	NCBI36
NG_016171.1:g.137514C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.76-4408C>G MANE Select	ENSP00000354952.4:n.76-4408C>G
ENST00000340149.6:c.-39-4408C>G	ENSP00000343959.2:n.-39-4408C>G
ENST00000361507.4:c.76-4408C>G	ENSP00000354952.4:n.76-4408C>G
ENST00000526030.1:n.255-4408C>G
ENST00000528886.5:c.-39-4408C>G	ENSP00000433762.1:n.-39-4408C>G
ENST00000530915.1:c.-39-4408C>G	ENSP00000431868.1:n.-39-4408C>G
ENST00000534823.1:n.127-4408C>G
NM_012296.3:c.-39-4408C>G	NP_036428.1:n.-39-4408C>G
NM_080491.2:c.76-4408C>G	NP_536739.1:n.76-4408C>G
XM_006718753.1:c.-39-4408C>G	XP_006718816.1:n.-39-4408C>G
XM_011545408.1:c.-341-4408C>G	XP_011543710.1:n.-341-4408C>G
XM_006718753.2:c.-39-4408C>G	XP_006718816.1:n.-39-4408C>G
XM_011545408.3:c.-341-4408C>G	XP_011543710.1:n.-341-4408C>G
XM_024448782.1:c.22-4408C>G	XP_024304550.1:n.22-4408C>G
NM_080491.3:c.76-4408C>G MANE Select	NP_536739.1:n.76-4408C>G
NM_012296.4:c.-39-4408C>G	NP_036428.1:n.-39-4408C>G