Canonical Allele Identifier: CA391381321

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386675A>G (hg19) ; chr15:g.28141529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141529A>G , CM000677.2:g.28141529A>G	GRCh38
NC_000015.9:g.28386675A>G , CM000677.1:g.28386675A>G	GRCh37
NC_000015.8:g.26060270A>G	NCBI36
NG_016355.1:g.185621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11918T>C MANE Select	ENSP00000261609.8:p.Val3973Ala
ENST00000650509.1:c.3629T>C	ENSP00000496936.1:p.Val1210Ala
ENST00000261609.11:c.11918T>C	ENSP00000261609.7:p.Val3973Ala
NM_004667.5:c.11918T>C	NP_004658.3:p.Val3973Ala
XM_005268276.3:c.11804T>C	XP_005268333.1:p.Val3935Ala
XM_005268277.3:c.11804T>C	XP_005268334.1:p.Val3935Ala
XM_006720726.2:c.11903T>C	XP_006720789.1:p.Val3968Ala
XM_006720727.2:c.11660T>C	XP_006720790.1:p.Val3887Ala
XM_011522131.1:c.11435T>C	XP_011520433.1:p.Val3812Ala
XM_011522132.1:c.9434T>C	XP_011520434.1:p.Val3145Ala
XM_011522133.1:c.8663T>C	XP_011520435.1:p.Val2888Ala
XM_011522134.1:c.6035T>C	XP_011520436.1:p.Val2012Ala
XM_005268276.5:c.11804T>C	XP_005268333.1:p.Val3935Ala
XM_006720726.3:c.11903T>C	XP_006720789.1:p.Val3968Ala
XM_006720727.3:c.11660T>C	XP_006720790.1:p.Val3887Ala
XM_017022695.1:c.11804T>C	XP_016878184.1:p.Val3935Ala
XM_017022696.1:c.11804T>C	XP_016878185.1:p.Val3935Ala
XM_017022697.1:c.5084T>C	XP_016878186.1:p.Val1695Ala
XM_017022698.1:c.5084T>C	XP_016878187.1:p.Val1695Ala
NM_004667.6:c.11918T>C MANE Select	NP_004658.3:p.Val3973Ala