Canonical Allele Identifier: CA489235041

Gene: HERC2

Linked Data

• dbSNP Id: rs1891252497
• gnomAD v3: 15-28141790-A-G
• gnomAD v4: 15-28141790-A-G
• COSMIC: COSM5005441 ; COSM5005442
• MyVariant Identifiers: chr15:g.28386936A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141790A>G , CM000677.2:g.28141790A>G	GRCh38
NC_000015.9:g.28386936A>G , CM000677.1:g.28386936A>G	GRCh37
NC_000015.8:g.26060531A>G	NCBI36
NG_016355.1:g.185360T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11757T>C MANE Select	ENSP00000261609.8:p.His3919=
ENST00000650509.1:c.3468T>C	ENSP00000496936.1:p.His1156=
ENST00000261609.11:c.11757T>C	ENSP00000261609.7:p.His3919=
ENST00000564519.1:n.272T>C
NM_004667.5:c.11757T>C	NP_004658.3:p.His3919=
XM_005268276.3:c.11643T>C	XP_005268333.1:p.His3881=
XM_005268277.3:c.11643T>C	XP_005268334.1:p.His3881=
XM_006720726.2:c.11742T>C	XP_006720789.1:p.His3914=
XM_006720727.2:c.11499T>C	XP_006720790.1:p.His3833=
XM_011522131.1:c.11274T>C	XP_011520433.1:p.His3758=
XM_011522132.1:c.9273T>C	XP_011520434.1:p.His3091=
XM_011522133.1:c.8502T>C	XP_011520435.1:p.His2834=
XM_011522134.1:c.5874T>C	XP_011520436.1:p.His1958=
XM_005268276.5:c.11643T>C	XP_005268333.1:p.His3881=
XM_006720726.3:c.11742T>C	XP_006720789.1:p.His3914=
XM_006720727.3:c.11499T>C	XP_006720790.1:p.His3833=
XM_017022695.1:c.11643T>C	XP_016878184.1:p.His3881=
XM_017022696.1:c.11643T>C	XP_016878185.1:p.His3881=
XM_017022697.1:c.4923T>C	XP_016878186.1:p.His1641=
XM_017022698.1:c.4923T>C	XP_016878187.1:p.His1641=
NM_004667.6:c.11757T>C MANE Select	NP_004658.3:p.His3919=