Canonical Allele Identifier: CA600436500

Gene: GAB2

Linked Data

• dbSNP Id: rs7107174
• gnomAD v2: 11-77997936-C-G
• gnomAD v3: 11-78286890-C-G
• gnomAD v4: 11-78286890-C-G
• MyVariant Identifiers: chr11:g.77997936C>G (hg19) ; chr11:g.78286890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78286890C>G , CM000673.2:g.78286890C>G	GRCh38
NC_000011.9:g.77997936C>G , CM000673.1:g.77997936C>G	GRCh37
NC_000011.8:g.77675584C>G	NCBI36
NG_016171.1:g.135933G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361507.5:c.76-5989G>C MANE Select	ENSP00000354952.4:n.76-5989G>C
ENST00000340149.6:c.-39-5989G>C	ENSP00000343959.2:n.-39-5989G>C
ENST00000361507.4:c.76-5989G>C	ENSP00000354952.4:n.76-5989G>C
ENST00000526030.1:n.255-5989G>C
ENST00000528886.5:c.-39-5989G>C	ENSP00000433762.1:n.-39-5989G>C
ENST00000530915.1:c.-39-5989G>C	ENSP00000431868.1:n.-39-5989G>C
ENST00000534823.1:n.127-5989G>C
NM_012296.3:c.-39-5989G>C	NP_036428.1:n.-39-5989G>C
NM_080491.2:c.76-5989G>C	NP_536739.1:n.76-5989G>C
XM_006718753.1:c.-39-5989G>C	XP_006718816.1:n.-39-5989G>C
XM_011545408.1:c.-341-5989G>C	XP_011543710.1:n.-341-5989G>C
XM_006718753.2:c.-39-5989G>C	XP_006718816.1:n.-39-5989G>C
XM_011545408.3:c.-341-5989G>C	XP_011543710.1:n.-341-5989G>C
XM_024448782.1:c.22-5989G>C	XP_024304550.1:n.22-5989G>C
NM_080491.3:c.76-5989G>C MANE Select	NP_536739.1:n.76-5989G>C
NM_012296.4:c.-39-5989G>C	NP_036428.1:n.-39-5989G>C