Canonical Allele Identifier: CA382140811

Gene: GAB2 USP35

Linked Data

• gnomAD v4: 11-78225122-C-T
• MyVariant Identifiers: chr11:g.77936168C>T (hg19) ; chr11:g.78225122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78225122C>T , CM000673.2:g.78225122C>T	GRCh38
NC_000011.9:g.77936168C>T , CM000673.1:g.77936168C>T	GRCh37
NC_000011.8:g.77613816C>T	NCBI36
NG_016171.1:g.197701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.1288G>A (GAB2) MANE Select	ENSP00000354952.4:p.Val430Ile
ENST00000340149.6:c.1174G>A (GAB2)	ENSP00000343959.2:p.Val392Ile
ENST00000361507.4:c.1288G>A (GAB2)	ENSP00000354952.4:p.Val430Ile
NM_012296.3:c.1174G>A (GAB2)	NP_036428.1:p.Val392Ile
NM_080491.2:c.1288G>A (GAB2)	NP_536739.1:p.Val430Ile
XM_006718753.1:c.1174G>A (GAB2)	XP_006718816.1:p.Val392Ile
XM_011545408.1:c.628G>A (GAB2)	XP_011543710.1:p.Val210Ile
XR_950117.1:n.1213G>A (GAB2)
XM_006718753.2:c.1174G>A (GAB2)	XP_006718816.1:p.Val392Ile
XM_011545408.3:c.628G>A (GAB2)	XP_011543710.1:p.Val210Ile
XM_024448782.1:c.1234G>A (GAB2)	XP_024304550.1:p.Val412Ile
XR_001747928.1:n.3879C>T (USP35)
XR_001747930.1:n.4422C>T (USP35)
XR_001747931.1:n.3762C>T (USP35)
NM_080491.3:c.1288G>A (GAB2) MANE Select	NP_536739.1:p.Val430Ile
NM_012296.4:c.1174G>A (GAB2)	NP_036428.1:p.Val392Ile