Canonical Allele Identifier: CA391381188

Gene: HERC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.11948C>A MANE Select	ENSP00000261609.8:p.Ala3983Glu
ENST00000650509.1:c.3659C>A	ENSP00000496936.1:p.Ala1220Glu
ENST00000261609.11:c.11948C>A	ENSP00000261609.7:p.Ala3983Glu
NM_004667.5:c.11948C>A	NP_004658.3:p.Ala3983Glu
XM_005268276.3:c.11834C>A	XP_005268333.1:p.Ala3945Glu
XM_005268277.3:c.11834C>A	XP_005268334.1:p.Ala3945Glu
XM_006720726.2:c.11933C>A	XP_006720789.1:p.Ala3978Glu
XM_006720727.2:c.11690C>A	XP_006720790.1:p.Ala3897Glu
XM_011522131.1:c.11465C>A	XP_011520433.1:p.Ala3822Glu
XM_011522132.1:c.9464C>A	XP_011520434.1:p.Ala3155Glu
XM_011522133.1:c.8693C>A	XP_011520435.1:p.Ala2898Glu
XM_011522134.1:c.6065C>A	XP_011520436.1:p.Ala2022Glu
XM_005268276.5:c.11834C>A	XP_005268333.1:p.Ala3945Glu
XM_006720726.3:c.11933C>A	XP_006720789.1:p.Ala3978Glu
XM_006720727.3:c.11690C>A	XP_006720790.1:p.Ala3897Glu
XM_017022695.1:c.11834C>A	XP_016878184.1:p.Ala3945Glu
XM_017022696.1:c.11834C>A	XP_016878185.1:p.Ala3945Glu
XM_017022697.1:c.5114C>A	XP_016878186.1:p.Ala1705Glu
XM_017022698.1:c.5114C>A	XP_016878187.1:p.Ala1705Glu
NM_004667.6:c.11948C>A MANE Select	NP_004658.3:p.Ala3983Glu