Canonical Allele Identifier: CA391381996

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386962C>G (hg19) ; chr15:g.28141816C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141816C>G , CM000677.2:g.28141816C>G	GRCh38
NC_000015.9:g.28386962C>G , CM000677.1:g.28386962C>G	GRCh37
NC_000015.8:g.26060557C>G	NCBI36
NG_016355.1:g.185334G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11731G>C MANE Select	ENSP00000261609.8:p.Asp3911His
ENST00000650509.1:c.3442G>C	ENSP00000496936.1:p.Asp1148His
ENST00000261609.11:c.11731G>C	ENSP00000261609.7:p.Asp3911His
ENST00000564519.1:n.246G>C
NM_004667.5:c.11731G>C	NP_004658.3:p.Asp3911His
XM_005268276.3:c.11617G>C	XP_005268333.1:p.Asp3873His
XM_005268277.3:c.11617G>C	XP_005268334.1:p.Asp3873His
XM_006720726.2:c.11716G>C	XP_006720789.1:p.Asp3906His
XM_006720727.2:c.11473G>C	XP_006720790.1:p.Asp3825His
XM_011522131.1:c.11248G>C	XP_011520433.1:p.Asp3750His
XM_011522132.1:c.9247G>C	XP_011520434.1:p.Asp3083His
XM_011522133.1:c.8476G>C	XP_011520435.1:p.Asp2826His
XM_011522134.1:c.5848G>C	XP_011520436.1:p.Asp1950His
XM_005268276.5:c.11617G>C	XP_005268333.1:p.Asp3873His
XM_006720726.3:c.11716G>C	XP_006720789.1:p.Asp3906His
XM_006720727.3:c.11473G>C	XP_006720790.1:p.Asp3825His
XM_017022695.1:c.11617G>C	XP_016878184.1:p.Asp3873His
XM_017022696.1:c.11617G>C	XP_016878185.1:p.Asp3873His
XM_017022697.1:c.4897G>C	XP_016878186.1:p.Asp1633His
XM_017022698.1:c.4897G>C	XP_016878187.1:p.Asp1633His
NM_004667.6:c.11731G>C MANE Select	NP_004658.3:p.Asp3911His