Canonical Allele Identifier: CA7442609

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28233239G>A , CM000677.2:g.28233239G>A	GRCh38
NC_000015.9:g.28478385G>A , CM000677.1:g.28478385G>A	GRCh37
NC_000015.8:g.26151980G>A	NCBI36
NG_016355.1:g.93911C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004667.6:c.4582C>T MANE Select	NP_004658.3:p.Leu1528Phe
ENST00000261609.13:c.4582C>T MANE Select	ENSP00000261609.8:p.Leu1528Phe
NM_004667.5:c.4582C>T	NP_004658.3:p.Leu1528Phe
ENST00000261609.11:c.4582C>T	ENSP00000261609.7:p.Leu1528Phe
XM_005268276.3:c.4468C>T	XP_005268333.1:p.Leu1490Phe
XM_005268276.5:c.4468C>T	XP_005268333.1:p.Leu1490Phe
XM_005268277.3:c.4468C>T	XP_005268334.1:p.Leu1490Phe
XM_006720726.2:c.4567C>T	XP_006720789.1:p.Leu1523Phe
XM_006720726.3:c.4567C>T	XP_006720789.1:p.Leu1523Phe
XM_006720727.2:c.4324C>T	XP_006720790.1:p.Leu1442Phe
XM_006720727.3:c.4324C>T	XP_006720790.1:p.Leu1442Phe
XM_011522131.1:c.4099C>T	XP_011520433.1:p.Leu1367Phe
XM_011522132.1:c.2098C>T	XP_011520434.1:p.Leu700Phe
XM_011522133.1:c.1327C>T	XP_011520435.1:p.Leu443Phe
XM_011522135.1:c.4582C>T	XP_011520437.1:p.Leu1528Phe
XM_011522136.1:c.4582C>T	XP_011520438.1:p.Leu1528Phe
XM_011522137.1:c.4582C>T	XP_011520439.1:p.Leu1528Phe
XM_017022695.1:c.4468C>T	XP_016878184.1:p.Leu1490Phe
XM_017022696.1:c.4468C>T	XP_016878185.1:p.Leu1490Phe
XR_001751410.1:n.4712C>T
XR_931930.1:n.4711C>T
XR_931930.2:n.4712C>T
XR_931931.1:n.4711C>T