Canonical Allele Identifier: CA391381183

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386645G>A (hg19) ; chr15:g.28141499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141499G>A , CM000677.2:g.28141499G>A	GRCh38
NC_000015.9:g.28386645G>A , CM000677.1:g.28386645G>A	GRCh37
NC_000015.8:g.26060240G>A	NCBI36
NG_016355.1:g.185651C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11948C>T MANE Select	ENSP00000261609.8:p.Ala3983Val
ENST00000650509.1:c.3659C>T	ENSP00000496936.1:p.Ala1220Val
ENST00000261609.11:c.11948C>T	ENSP00000261609.7:p.Ala3983Val
NM_004667.5:c.11948C>T	NP_004658.3:p.Ala3983Val
XM_005268276.3:c.11834C>T	XP_005268333.1:p.Ala3945Val
XM_005268277.3:c.11834C>T	XP_005268334.1:p.Ala3945Val
XM_006720726.2:c.11933C>T	XP_006720789.1:p.Ala3978Val
XM_006720727.2:c.11690C>T	XP_006720790.1:p.Ala3897Val
XM_011522131.1:c.11465C>T	XP_011520433.1:p.Ala3822Val
XM_011522132.1:c.9464C>T	XP_011520434.1:p.Ala3155Val
XM_011522133.1:c.8693C>T	XP_011520435.1:p.Ala2898Val
XM_011522134.1:c.6065C>T	XP_011520436.1:p.Ala2022Val
XM_005268276.5:c.11834C>T	XP_005268333.1:p.Ala3945Val
XM_006720726.3:c.11933C>T	XP_006720789.1:p.Ala3978Val
XM_006720727.3:c.11690C>T	XP_006720790.1:p.Ala3897Val
XM_017022695.1:c.11834C>T	XP_016878184.1:p.Ala3945Val
XM_017022696.1:c.11834C>T	XP_016878185.1:p.Ala3945Val
XM_017022697.1:c.5114C>T	XP_016878186.1:p.Ala1705Val
XM_017022698.1:c.5114C>T	XP_016878187.1:p.Ala1705Val
NM_004667.6:c.11948C>T MANE Select	NP_004658.3:p.Ala3983Val