Canonical Allele Identifier: CA391380908

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386598C>G (hg19) ; chr15:g.28141452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141452C>G , CM000677.2:g.28141452C>G	GRCh38
NC_000015.9:g.28386598C>G , CM000677.1:g.28386598C>G	GRCh37
NC_000015.8:g.26060193C>G	NCBI36
NG_016355.1:g.185698G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11995G>C MANE Select	ENSP00000261609.8:p.Ala3999Pro
ENST00000650509.1:c.3706G>C	ENSP00000496936.1:p.Ala1236Pro
ENST00000261609.11:c.11995G>C	ENSP00000261609.7:p.Ala3999Pro
NM_004667.5:c.11995G>C	NP_004658.3:p.Ala3999Pro
XM_005268276.3:c.11881G>C	XP_005268333.1:p.Ala3961Pro
XM_005268277.3:c.11881G>C	XP_005268334.1:p.Ala3961Pro
XM_006720726.2:c.11980G>C	XP_006720789.1:p.Ala3994Pro
XM_006720727.2:c.11737G>C	XP_006720790.1:p.Ala3913Pro
XM_011522131.1:c.11512G>C	XP_011520433.1:p.Ala3838Pro
XM_011522132.1:c.9511G>C	XP_011520434.1:p.Ala3171Pro
XM_011522133.1:c.8740G>C	XP_011520435.1:p.Ala2914Pro
XM_011522134.1:c.6112G>C	XP_011520436.1:p.Ala2038Pro
XM_005268276.5:c.11881G>C	XP_005268333.1:p.Ala3961Pro
XM_006720726.3:c.11980G>C	XP_006720789.1:p.Ala3994Pro
XM_006720727.3:c.11737G>C	XP_006720790.1:p.Ala3913Pro
XM_017022695.1:c.11881G>C	XP_016878184.1:p.Ala3961Pro
XM_017022696.1:c.11881G>C	XP_016878185.1:p.Ala3961Pro
XM_017022697.1:c.5161G>C	XP_016878186.1:p.Ala1721Pro
XM_017022698.1:c.5161G>C	XP_016878187.1:p.Ala1721Pro
NM_004667.6:c.11995G>C MANE Select	NP_004658.3:p.Ala3999Pro