Canonical Allele Identifier: CA600437026

Gene: GAB2

Linked Data

• dbSNP Id: rs1397714675
• gnomAD v2: 11-78091145-G-C
• gnomAD v3: 11-78380099-G-C
• gnomAD v4: 11-78380099-G-C
• MyVariant Identifiers: chr11:g.78091145G>C (hg19) ; chr11:g.78380099G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78380099G>C , CM000673.2:g.78380099G>C	GRCh38
NC_000011.9:g.78091145G>C , CM000673.1:g.78091145G>C	GRCh37
NC_000011.8:g.77768793G>C	NCBI36
NG_016171.1:g.42724C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.75+37547C>G MANE Select	ENSP00000354952.4:n.75+37547C>G
ENST00000361507.4:c.75+37547C>G	ENSP00000354952.4:n.75+37547C>G
ENST00000526030.1:n.177+37547C>G
ENST00000528886.5:c.-40+38138C>G	ENSP00000433762.1:n.-40+38138C>G
ENST00000530915.1:c.-127-15996C>G	ENSP00000431868.1:n.-127-15996C>G
ENST00000534823.1:n.126+37547C>G
NM_080491.2:c.75+37547C>G	NP_536739.1:n.75+37547C>G
XM_006718753.1:c.-127-15996C>G	XP_006718816.1:n.-127-15996C>G
XM_006718753.2:c.-127-15996C>G	XP_006718816.1:n.-127-15996C>G
NM_080491.3:c.75+37547C>G MANE Select	NP_536739.1:n.75+37547C>G