Canonical Allele Identifier: CA391381972

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386953T>G (hg19) ; chr15:g.28141807T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141807T>G , CM000677.2:g.28141807T>G	GRCh38
NC_000015.9:g.28386953T>G , CM000677.1:g.28386953T>G	GRCh37
NC_000015.8:g.26060548T>G	NCBI36
NG_016355.1:g.185343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11740A>C MANE Select	ENSP00000261609.8:p.Asn3914His
ENST00000650509.1:c.3451A>C	ENSP00000496936.1:p.Asn1151His
ENST00000261609.11:c.11740A>C	ENSP00000261609.7:p.Asn3914His
ENST00000564519.1:n.255A>C
NM_004667.5:c.11740A>C	NP_004658.3:p.Asn3914His
XM_005268276.3:c.11626A>C	XP_005268333.1:p.Asn3876His
XM_005268277.3:c.11626A>C	XP_005268334.1:p.Asn3876His
XM_006720726.2:c.11725A>C	XP_006720789.1:p.Asn3909His
XM_006720727.2:c.11482A>C	XP_006720790.1:p.Asn3828His
XM_011522131.1:c.11257A>C	XP_011520433.1:p.Asn3753His
XM_011522132.1:c.9256A>C	XP_011520434.1:p.Asn3086His
XM_011522133.1:c.8485A>C	XP_011520435.1:p.Asn2829His
XM_011522134.1:c.5857A>C	XP_011520436.1:p.Asn1953His
XM_005268276.5:c.11626A>C	XP_005268333.1:p.Asn3876His
XM_006720726.3:c.11725A>C	XP_006720789.1:p.Asn3909His
XM_006720727.3:c.11482A>C	XP_006720790.1:p.Asn3828His
XM_017022695.1:c.11626A>C	XP_016878184.1:p.Asn3876His
XM_017022696.1:c.11626A>C	XP_016878185.1:p.Asn3876His
XM_017022697.1:c.4906A>C	XP_016878186.1:p.Asn1636His
XM_017022698.1:c.4906A>C	XP_016878187.1:p.Asn1636His
NM_004667.6:c.11740A>C MANE Select	NP_004658.3:p.Asn3914His