Canonical Allele Identifier: CA225085086

Gene: GAB2

Linked Data

• dbSNP Id: rs1049183879
• MyVariant Identifiers: chr11:g.78053200T>C (hg19) ; chr11:g.78342154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78342154T>C , CM000673.2:g.78342154T>C	GRCh38
NC_000011.9:g.78053200T>C , CM000673.1:g.78053200T>C	GRCh37
NC_000011.8:g.77730848T>C	NCBI36
NG_016171.1:g.80669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.76-61253A>G MANE Select	ENSP00000354952.4:n.76-61253A>G
ENST00000361507.4:c.76-61253A>G	ENSP00000354952.4:n.76-61253A>G
ENST00000526030.1:n.178-23935A>G
ENST00000528886.5:c.-39-61253A>G	ENSP00000433762.1:n.-39-61253A>G
ENST00000530915.1:c.-40+21862A>G	ENSP00000431868.1:n.-40+21862A>G
ENST00000534823.1:n.127-61253A>G
NM_080491.2:c.76-61253A>G	NP_536739.1:n.76-61253A>G
XM_006718753.1:c.-40+21862A>G	XP_006718816.1:n.-40+21862A>G
XM_006718753.2:c.-40+21862A>G	XP_006718816.1:n.-40+21862A>G
XM_024448782.1:c.21+12580A>G	XP_024304550.1:n.21+12580A>G
NM_080491.3:c.76-61253A>G MANE Select	NP_536739.1:n.76-61253A>G