Canonical Allele Identifier: CA7441591

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28196569G>C , CM000677.2:g.28196569G>C	GRCh38
NC_000015.9:g.28441715G>C , CM000677.1:g.28441715G>C	GRCh37
NC_000015.8:g.26115310G>C	NCBI36
NG_016355.1:g.130581C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.8012C>G MANE Select	ENSP00000261609.8:p.Ala2671Gly
ENST00000261609.11:c.8012C>G	ENSP00000261609.7:p.Ala2671Gly
ENST00000567869.1:n.2122C>G
NM_004667.5:c.8012C>G	NP_004658.3:p.Ala2671Gly
XM_005268276.3:c.7898C>G	XP_005268333.1:p.Ala2633Gly
XM_005268277.3:c.7898C>G	XP_005268334.1:p.Ala2633Gly
XM_006720726.2:c.7997C>G	XP_006720789.1:p.Ala2666Gly
XM_006720727.2:c.7754C>G	XP_006720790.1:p.Ala2585Gly
XM_011522131.1:c.7529C>G	XP_011520433.1:p.Ala2510Gly
XM_011522132.1:c.5528C>G	XP_011520434.1:p.Ala1843Gly
XM_011522133.1:c.4757C>G	XP_011520435.1:p.Ala1586Gly
XM_011522134.1:c.2129C>G	XP_011520436.1:p.Ala710Gly
XR_931930.1:n.8141C>G
XR_931931.1:n.8141-215C>G
XM_005268276.5:c.7898C>G	XP_005268333.1:p.Ala2633Gly
XM_006720726.3:c.7997C>G	XP_006720789.1:p.Ala2666Gly
XM_006720727.3:c.7754C>G	XP_006720790.1:p.Ala2585Gly
XM_017022695.1:c.7898C>G	XP_016878184.1:p.Ala2633Gly
XM_017022696.1:c.7898C>G	XP_016878185.1:p.Ala2633Gly
XM_017022697.1:c.1178C>G	XP_016878186.1:p.Ala393Gly
XM_017022698.1:c.1178C>G	XP_016878187.1:p.Ala393Gly
XR_001751410.1:n.8142-215C>G
XR_931930.2:n.8142C>G
NM_004667.6:c.8012C>G MANE Select	NP_004658.3:p.Ala2671Gly