Canonical Allele Identifier: CA391381454

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386708C>A (hg19) ; chr15:g.28141562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141562C>A , CM000677.2:g.28141562C>A	GRCh38
NC_000015.9:g.28386708C>A , CM000677.1:g.28386708C>A	GRCh37
NC_000015.8:g.26060303C>A	NCBI36
NG_016355.1:g.185588G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11885G>T MANE Select	ENSP00000261609.8:p.Arg3962Met
ENST00000650509.1:c.3596G>T	ENSP00000496936.1:p.Arg1199Met
ENST00000261609.11:c.11885G>T	ENSP00000261609.7:p.Arg3962Met
NM_004667.5:c.11885G>T	NP_004658.3:p.Arg3962Met
XM_005268276.3:c.11771G>T	XP_005268333.1:p.Arg3924Met
XM_005268277.3:c.11771G>T	XP_005268334.1:p.Arg3924Met
XM_006720726.2:c.11870G>T	XP_006720789.1:p.Arg3957Met
XM_006720727.2:c.11627G>T	XP_006720790.1:p.Arg3876Met
XM_011522131.1:c.11402G>T	XP_011520433.1:p.Arg3801Met
XM_011522132.1:c.9401G>T	XP_011520434.1:p.Arg3134Met
XM_011522133.1:c.8630G>T	XP_011520435.1:p.Arg2877Met
XM_011522134.1:c.6002G>T	XP_011520436.1:p.Arg2001Met
XM_005268276.5:c.11771G>T	XP_005268333.1:p.Arg3924Met
XM_006720726.3:c.11870G>T	XP_006720789.1:p.Arg3957Met
XM_006720727.3:c.11627G>T	XP_006720790.1:p.Arg3876Met
XM_017022695.1:c.11771G>T	XP_016878184.1:p.Arg3924Met
XM_017022696.1:c.11771G>T	XP_016878185.1:p.Arg3924Met
XM_017022697.1:c.5051G>T	XP_016878186.1:p.Arg1684Met
XM_017022698.1:c.5051G>T	XP_016878187.1:p.Arg1684Met
NM_004667.6:c.11885G>T MANE Select	NP_004658.3:p.Arg3962Met