Canonical Allele Identifier: CA7442599

Gene: HERC2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28233196C>T , CM000677.2:g.28233196C>T	GRCh38
NC_000015.9:g.28478342C>T , CM000677.1:g.28478342C>T	GRCh37
NC_000015.8:g.26151937C>T	NCBI36
NG_016355.1:g.93954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.4625G>A MANE Select	ENSP00000261609.8:p.Arg1542His
ENST00000261609.11:c.4625G>A	ENSP00000261609.7:p.Arg1542His
NM_004667.5:c.4625G>A	NP_004658.3:p.Arg1542His
XM_005268276.3:c.4511G>A	XP_005268333.1:p.Arg1504His
XM_005268277.3:c.4511G>A	XP_005268334.1:p.Arg1504His
XM_006720726.2:c.4610G>A	XP_006720789.1:p.Arg1537His
XM_006720727.2:c.4367G>A	XP_006720790.1:p.Arg1456His
XM_011522131.1:c.4142G>A	XP_011520433.1:p.Arg1381His
XM_011522132.1:c.2141G>A	XP_011520434.1:p.Arg714His
XM_011522133.1:c.1370G>A	XP_011520435.1:p.Arg457His
XM_011522135.1:c.4625G>A	XP_011520437.1:p.Arg1542His
XM_011522136.1:c.4625G>A	XP_011520438.1:p.Arg1542His
XM_011522137.1:c.4625G>A	XP_011520439.1:p.Arg1542His
XR_931930.1:n.4754G>A
XR_931931.1:n.4754G>A
XM_005268276.5:c.4511G>A	XP_005268333.1:p.Arg1504His
XM_006720726.3:c.4610G>A	XP_006720789.1:p.Arg1537His
XM_006720727.3:c.4367G>A	XP_006720790.1:p.Arg1456His
XM_017022695.1:c.4511G>A	XP_016878184.1:p.Arg1504His
XM_017022696.1:c.4511G>A	XP_016878185.1:p.Arg1504His
XR_001751410.1:n.4755G>A
XR_931930.2:n.4755G>A
NM_004667.6:c.4625G>A MANE Select	NP_004658.3:p.Arg1542His