Canonical Allele Identifier: CA488962639

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386990C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141844C>G , CM000677.2:g.28141844C>G	GRCh38
NC_000015.9:g.28386990C>G , CM000677.1:g.28386990C>G	GRCh37
NC_000015.8:g.26060585C>G	NCBI36
NG_016355.1:g.185306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11703G>C MANE Select	ENSP00000261609.8:p.Val3901=
ENST00000650509.1:c.3414G>C	ENSP00000496936.1:p.Val1138=
ENST00000261609.11:c.11703G>C	ENSP00000261609.7:p.Val3901=
ENST00000564519.1:n.218G>C
NM_004667.5:c.11703G>C	NP_004658.3:p.Val3901=
XM_005268276.3:c.11589G>C	XP_005268333.1:p.Val3863=
XM_005268277.3:c.11589G>C	XP_005268334.1:p.Val3863=
XM_006720726.2:c.11688G>C	XP_006720789.1:p.Val3896=
XM_006720727.2:c.11445G>C	XP_006720790.1:p.Val3815=
XM_011522131.1:c.11220G>C	XP_011520433.1:p.Val3740=
XM_011522132.1:c.9219G>C	XP_011520434.1:p.Val3073=
XM_011522133.1:c.8448G>C	XP_011520435.1:p.Val2816=
XM_011522134.1:c.5820G>C	XP_011520436.1:p.Val1940=
XM_005268276.5:c.11589G>C	XP_005268333.1:p.Val3863=
XM_006720726.3:c.11688G>C	XP_006720789.1:p.Val3896=
XM_006720727.3:c.11445G>C	XP_006720790.1:p.Val3815=
XM_017022695.1:c.11589G>C	XP_016878184.1:p.Val3863=
XM_017022696.1:c.11589G>C	XP_016878185.1:p.Val3863=
XM_017022697.1:c.4869G>C	XP_016878186.1:p.Val1623=
XM_017022698.1:c.4869G>C	XP_016878187.1:p.Val1623=
NM_004667.6:c.11703G>C MANE Select	NP_004658.3:p.Val3901=