Canonical Allele Identifier: CA7442372

Gene: HERC2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28228308T>C , CM000677.2:g.28228308T>C	GRCh38
NC_000015.9:g.28473454T>C , CM000677.1:g.28473454T>C	GRCh37
NC_000015.8:g.26147049T>C	NCBI36
NG_016355.1:g.98842A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.5374A>G MANE Select	ENSP00000261609.8:p.Met1792Val
ENST00000261609.11:c.5374A>G	ENSP00000261609.7:p.Met1792Val
ENST00000569335.1:n.424A>G
NM_004667.5:c.5374A>G	NP_004658.3:p.Met1792Val
XM_005268276.3:c.5260A>G	XP_005268333.1:p.Met1754Val
XM_005268277.3:c.5260A>G	XP_005268334.1:p.Met1754Val
XM_006720726.2:c.5359A>G	XP_006720789.1:p.Met1787Val
XM_006720727.2:c.5116A>G	XP_006720790.1:p.Met1706Val
XM_011522131.1:c.4891A>G	XP_011520433.1:p.Met1631Val
XM_011522132.1:c.2890A>G	XP_011520434.1:p.Met964Val
XM_011522133.1:c.2119A>G	XP_011520435.1:p.Met707Val
XM_011522135.1:c.5374A>G	XP_011520437.1:p.Met1792Val
XM_011522136.1:c.5374A>G	XP_011520438.1:p.Met1792Val
XM_011522137.1:c.5374A>G	XP_011520439.1:p.Met1792Val
XR_931930.1:n.5503A>G
XR_931931.1:n.5503A>G
XM_005268276.5:c.5260A>G	XP_005268333.1:p.Met1754Val
XM_006720726.3:c.5359A>G	XP_006720789.1:p.Met1787Val
XM_006720727.3:c.5116A>G	XP_006720790.1:p.Met1706Val
XM_017022695.1:c.5260A>G	XP_016878184.1:p.Met1754Val
XM_017022696.1:c.5260A>G	XP_016878185.1:p.Met1754Val
XR_001751410.1:n.5504A>G
XR_931930.2:n.5504A>G
NM_004667.6:c.5374A>G MANE Select	NP_004658.3:p.Met1792Val