Canonical Allele Identifier: CA117046

Gene: HERC2

Linked Data

• ClinVar Variation Id: 4745
• ClinVar RCV Id: RCV000005011
• dbSNP Id: rs12913832
• gnomAD v2: 15-28365618-A-G
• gnomAD v3: 15-28120472-A-G
• gnomAD v4: 15-28120472-A-G
• MyVariant Identifiers: chr15:g.28365618A>G (hg19) ; chr15:g.28120472A>G (hg38)
• PubMed: PMID:17236130 ; PMID:18172690 ; PMID:18252222 ; PMID:22234890

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28120472A>G , CM000677.2:g.28120472A>G	GRCh38
NC_000015.9:g.28365618A>G , CM000677.1:g.28365618A>G	GRCh37
NC_000015.8:g.26039213A>G	NCBI36
NG_016355.1:g.206678T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.13272+874T>C MANE Select	ENSP00000261609.8:n.13272+874T>C
ENST00000650509.1:c.4751+874T>C	ENSP00000496936.1:n.4751+874T>C
ENST00000261609.11:c.13272+874T>C	ENSP00000261609.7:n.13272+874T>C
NM_004667.5:c.13272+874T>C	NP_004658.3:n.13272+874T>C
XM_005268276.3:c.13158+874T>C	XP_005268333.1:n.13158+874T>C
XM_005268277.3:c.13158+874T>C	XP_005268334.1:n.13158+874T>C
XM_006720726.2:c.13257+874T>C	XP_006720789.1:n.13257+874T>C
XM_006720727.2:c.13014+874T>C	XP_006720790.1:n.13014+874T>C
XM_011522131.1:c.12789+874T>C	XP_011520433.1:n.12789+874T>C
XM_011522132.1:c.10788+874T>C	XP_011520434.1:n.10788+874T>C
XM_011522133.1:c.10017+874T>C	XP_011520435.1:n.10017+874T>C
XM_011522134.1:c.7389+874T>C	XP_011520436.1:n.7389+874T>C
XM_005268276.5:c.13158+874T>C	XP_005268333.1:n.13158+874T>C
XM_006720726.3:c.13257+874T>C	XP_006720789.1:n.13257+874T>C
XM_006720727.3:c.13014+874T>C	XP_006720790.1:n.13014+874T>C
XM_017022695.1:c.13158+874T>C	XP_016878184.1:n.13158+874T>C
XM_017022696.1:c.13158+874T>C	XP_016878185.1:n.13158+874T>C
XM_017022697.1:c.6438+874T>C	XP_016878186.1:n.6438+874T>C
XM_017022698.1:c.6438+874T>C	XP_016878187.1:n.6438+874T>C
NM_004667.6:c.13272+874T>C MANE Select	NP_004658.3:n.13272+874T>C