Canonical Allele Identifier: CA7441670

Gene: HERC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28198757C>T , CM000677.2:g.28198757C>T	GRCh38
NC_000015.9:g.28443903C>T , CM000677.1:g.28443903C>T	GRCh37
NC_000015.8:g.26117498C>T	NCBI36
NG_016355.1:g.128393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.7729G>A MANE Select	ENSP00000261609.8:p.Val2577Ile
ENST00000261609.11:c.7729G>A	ENSP00000261609.7:p.Val2577Ile
ENST00000567869.1:n.1839G>A
NM_004667.5:c.7729G>A	NP_004658.3:p.Val2577Ile
XM_005268276.3:c.7615G>A	XP_005268333.1:p.Val2539Ile
XM_005268277.3:c.7615G>A	XP_005268334.1:p.Val2539Ile
XM_006720726.2:c.7714G>A	XP_006720789.1:p.Val2572Ile
XM_006720727.2:c.7471G>A	XP_006720790.1:p.Val2491Ile
XM_011522131.1:c.7246G>A	XP_011520433.1:p.Val2416Ile
XM_011522132.1:c.5245G>A	XP_011520434.1:p.Val1749Ile
XM_011522133.1:c.4474G>A	XP_011520435.1:p.Val1492Ile
XM_011522134.1:c.1846G>A	XP_011520436.1:p.Val616Ile
XR_931930.1:n.7858G>A
XR_931931.1:n.7858G>A
XM_005268276.5:c.7615G>A	XP_005268333.1:p.Val2539Ile
XM_006720726.3:c.7714G>A	XP_006720789.1:p.Val2572Ile
XM_006720727.3:c.7471G>A	XP_006720790.1:p.Val2491Ile
XM_017022695.1:c.7615G>A	XP_016878184.1:p.Val2539Ile
XM_017022696.1:c.7615G>A	XP_016878185.1:p.Val2539Ile
XM_017022697.1:c.895G>A	XP_016878186.1:p.Val299Ile
XM_017022698.1:c.895G>A	XP_016878187.1:p.Val299Ile
XR_001751410.1:n.7859G>A
XR_931930.2:n.7859G>A
NM_004667.6:c.7729G>A MANE Select	NP_004658.3:p.Val2577Ile