Canonical Allele Identifier: CA475998928

Gene: GAB2 USP35

Linked Data

• gnomAD v4: 11-78225120-A-T
• MyVariant Identifiers: chr11:g.77936166A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78225120A>T , CM000673.2:g.78225120A>T	GRCh38
NC_000011.9:g.77936166A>T , CM000673.1:g.77936166A>T	GRCh37
NC_000011.8:g.77613814A>T	NCBI36
NG_016171.1:g.197703T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361507.5:c.1290T>A (GAB2) MANE Select	ENSP00000354952.4:p.Val430=
ENST00000340149.6:c.1176T>A (GAB2)	ENSP00000343959.2:p.Val392=
ENST00000361507.4:c.1290T>A (GAB2)	ENSP00000354952.4:p.Val430=
NM_012296.3:c.1176T>A (GAB2)	NP_036428.1:p.Val392=
NM_080491.2:c.1290T>A (GAB2)	NP_536739.1:p.Val430=
XM_006718753.1:c.1176T>A (GAB2)	XP_006718816.1:p.Val392=
XM_011545408.1:c.630T>A (GAB2)	XP_011543710.1:p.Val210=
XR_950117.1:n.1215T>A (GAB2)
XM_006718753.2:c.1176T>A (GAB2)	XP_006718816.1:p.Val392=
XM_011545408.3:c.630T>A (GAB2)	XP_011543710.1:p.Val210=
XM_024448782.1:c.1236T>A (GAB2)	XP_024304550.1:p.Val412=
XR_001747928.1:n.3877A>T (USP35)
XR_001747930.1:n.4420A>T (USP35)
XR_001747931.1:n.3760A>T (USP35)
NM_080491.3:c.1290T>A (GAB2) MANE Select	NP_536739.1:p.Val430=
NM_012296.4:c.1176T>A (GAB2)	NP_036428.1:p.Val392=