Canonical Allele Identifier: CA267923717

Gene: HERC2

Linked Data

• dbSNP Id: rs539866856
• gnomAD v3: 15-28120300-G-A
• gnomAD v4: 15-28120300-G-A
• MyVariant Identifiers: chr15:g.28365446G>A (hg19) ; chr15:g.28120300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28120300G>A , CM000677.2:g.28120300G>A	GRCh38
NC_000015.9:g.28365446G>A , CM000677.1:g.28365446G>A	GRCh37
NC_000015.8:g.26039041G>A	NCBI36
NG_016355.1:g.206850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.13272+1046C>T MANE Select	ENSP00000261609.8:n.13272+1046C>T
ENST00000650509.1:c.4751+1046C>T	ENSP00000496936.1:n.4751+1046C>T
ENST00000261609.11:c.13272+1046C>T	ENSP00000261609.7:n.13272+1046C>T
NM_004667.5:c.13272+1046C>T	NP_004658.3:n.13272+1046C>T
XM_005268276.3:c.13158+1046C>T	XP_005268333.1:n.13158+1046C>T
XM_005268277.3:c.13158+1046C>T	XP_005268334.1:n.13158+1046C>T
XM_006720726.2:c.13257+1046C>T	XP_006720789.1:n.13257+1046C>T
XM_006720727.2:c.13014+1046C>T	XP_006720790.1:n.13014+1046C>T
XM_011522131.1:c.12789+1046C>T	XP_011520433.1:n.12789+1046C>T
XM_011522132.1:c.10788+1046C>T	XP_011520434.1:n.10788+1046C>T
XM_011522133.1:c.10017+1046C>T	XP_011520435.1:n.10017+1046C>T
XM_011522134.1:c.7389+1046C>T	XP_011520436.1:n.7389+1046C>T
XM_005268276.5:c.13158+1046C>T	XP_005268333.1:n.13158+1046C>T
XM_006720726.3:c.13257+1046C>T	XP_006720789.1:n.13257+1046C>T
XM_006720727.3:c.13014+1046C>T	XP_006720790.1:n.13014+1046C>T
XM_017022695.1:c.13158+1046C>T	XP_016878184.1:n.13158+1046C>T
XM_017022696.1:c.13158+1046C>T	XP_016878185.1:n.13158+1046C>T
XM_017022697.1:c.6438+1046C>T	XP_016878186.1:n.6438+1046C>T
XM_017022698.1:c.6438+1046C>T	XP_016878187.1:n.6438+1046C>T
NM_004667.6:c.13272+1046C>T MANE Select	NP_004658.3:n.13272+1046C>T