Canonical Allele Identifier: CA6205073

Gene: GAB2 USP35

Linked Data

• dbSNP Id: rs746821961
• ExAC: 11:77936178 C / A
• gnomAD v2: 11-77936178-C-A
• MyVariant Identifiers: chr11:g.77936178C>A (hg19) ; chr11:g.78225132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78225132C>A , CM000673.2:g.78225132C>A	GRCh38
NC_000011.9:g.77936178C>A , CM000673.1:g.77936178C>A	GRCh37
NC_000011.8:g.77613826C>A	NCBI36
NG_016171.1:g.197691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.1278G>T (GAB2) MANE Select	ENSP00000354952.4:p.Met426Ile
ENST00000340149.6:c.1164G>T (GAB2)	ENSP00000343959.2:p.Met388Ile
ENST00000361507.4:c.1278G>T (GAB2)	ENSP00000354952.4:p.Met426Ile
NM_012296.3:c.1164G>T (GAB2)	NP_036428.1:p.Met388Ile
NM_080491.2:c.1278G>T (GAB2)	NP_536739.1:p.Met426Ile
XM_006718753.1:c.1164G>T (GAB2)	XP_006718816.1:p.Met388Ile
XM_011545408.1:c.618G>T (GAB2)	XP_011543710.1:p.Met206Ile
XR_950117.1:n.1203G>T (GAB2)
XM_006718753.2:c.1164G>T (GAB2)	XP_006718816.1:p.Met388Ile
XM_011545408.3:c.618G>T (GAB2)	XP_011543710.1:p.Met206Ile
XM_024448782.1:c.1224G>T (GAB2)	XP_024304550.1:p.Met408Ile
XR_001747928.1:n.3889C>A (USP35)
XR_001747930.1:n.4432C>A (USP35)
XR_001747931.1:n.3772C>A (USP35)
NM_080491.3:c.1278G>T (GAB2) MANE Select	NP_536739.1:p.Met426Ile
NM_012296.4:c.1164G>T (GAB2)	NP_036428.1:p.Met388Ile