Canonical Allele Identifier: CA391380815

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386582C>A (hg19) ; chr15:g.28141436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141436C>A , CM000677.2:g.28141436C>A	GRCh38
NC_000015.9:g.28386582C>A , CM000677.1:g.28386582C>A	GRCh37
NC_000015.8:g.26060177C>A	NCBI36
NG_016355.1:g.185714G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.12011G>T MANE Select	ENSP00000261609.8:p.Gly4004Val
ENST00000650509.1:c.3722G>T	ENSP00000496936.1:p.Gly1241Val
ENST00000261609.11:c.12011G>T	ENSP00000261609.7:p.Gly4004Val
NM_004667.5:c.12011G>T	NP_004658.3:p.Gly4004Val
XM_005268276.3:c.11897G>T	XP_005268333.1:p.Gly3966Val
XM_005268277.3:c.11897G>T	XP_005268334.1:p.Gly3966Val
XM_006720726.2:c.11996G>T	XP_006720789.1:p.Gly3999Val
XM_006720727.2:c.11753G>T	XP_006720790.1:p.Gly3918Val
XM_011522131.1:c.11528G>T	XP_011520433.1:p.Gly3843Val
XM_011522132.1:c.9527G>T	XP_011520434.1:p.Gly3176Val
XM_011522133.1:c.8756G>T	XP_011520435.1:p.Gly2919Val
XM_011522134.1:c.6128G>T	XP_011520436.1:p.Gly2043Val
XM_005268276.5:c.11897G>T	XP_005268333.1:p.Gly3966Val
XM_006720726.3:c.11996G>T	XP_006720789.1:p.Gly3999Val
XM_006720727.3:c.11753G>T	XP_006720790.1:p.Gly3918Val
XM_017022695.1:c.11897G>T	XP_016878184.1:p.Gly3966Val
XM_017022696.1:c.11897G>T	XP_016878185.1:p.Gly3966Val
XM_017022697.1:c.5177G>T	XP_016878186.1:p.Gly1726Val
XM_017022698.1:c.5177G>T	XP_016878187.1:p.Gly1726Val
NM_004667.6:c.12011G>T MANE Select	NP_004658.3:p.Gly4004Val