Canonical Allele Identifier: CA391381808

Gene: HERC2

Linked Data

• dbSNP Id: rs1407489266
• gnomAD v2: 15-28386885-C-G
• gnomAD v4: 15-28141739-C-G
• MyVariant Identifiers: chr15:g.28386885C>G (hg19) ; chr15:g.28141739C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141739C>G , CM000677.2:g.28141739C>G	GRCh38
NC_000015.9:g.28386885C>G , CM000677.1:g.28386885C>G	GRCh37
NC_000015.8:g.26060480C>G	NCBI36
NG_016355.1:g.185411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11808G>C MANE Select	ENSP00000261609.8:p.Trp3936Cys
ENST00000650509.1:c.3519G>C	ENSP00000496936.1:p.Trp1173Cys
ENST00000261609.11:c.11808G>C	ENSP00000261609.7:p.Trp3936Cys
ENST00000564519.1:n.323G>C
NM_004667.5:c.11808G>C	NP_004658.3:p.Trp3936Cys
XM_005268276.3:c.11694G>C	XP_005268333.1:p.Trp3898Cys
XM_005268277.3:c.11694G>C	XP_005268334.1:p.Trp3898Cys
XM_006720726.2:c.11793G>C	XP_006720789.1:p.Trp3931Cys
XM_006720727.2:c.11550G>C	XP_006720790.1:p.Trp3850Cys
XM_011522131.1:c.11325G>C	XP_011520433.1:p.Trp3775Cys
XM_011522132.1:c.9324G>C	XP_011520434.1:p.Trp3108Cys
XM_011522133.1:c.8553G>C	XP_011520435.1:p.Trp2851Cys
XM_011522134.1:c.5925G>C	XP_011520436.1:p.Trp1975Cys
XM_005268276.5:c.11694G>C	XP_005268333.1:p.Trp3898Cys
XM_006720726.3:c.11793G>C	XP_006720789.1:p.Trp3931Cys
XM_006720727.3:c.11550G>C	XP_006720790.1:p.Trp3850Cys
XM_017022695.1:c.11694G>C	XP_016878184.1:p.Trp3898Cys
XM_017022696.1:c.11694G>C	XP_016878185.1:p.Trp3898Cys
XM_017022697.1:c.4974G>C	XP_016878186.1:p.Trp1658Cys
XM_017022698.1:c.4974G>C	XP_016878187.1:p.Trp1658Cys
NM_004667.6:c.11808G>C MANE Select	NP_004658.3:p.Trp3936Cys