Canonical Allele Identifier: CA391380991

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386612T>A (hg19) ; chr15:g.28141466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141466T>A , CM000677.2:g.28141466T>A	GRCh38
NC_000015.9:g.28386612T>A , CM000677.1:g.28386612T>A	GRCh37
NC_000015.8:g.26060207T>A	NCBI36
NG_016355.1:g.185684A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11981A>T MANE Select	ENSP00000261609.8:p.Glu3994Val
ENST00000650509.1:c.3692A>T	ENSP00000496936.1:p.Glu1231Val
ENST00000261609.11:c.11981A>T	ENSP00000261609.7:p.Glu3994Val
NM_004667.5:c.11981A>T	NP_004658.3:p.Glu3994Val
XM_005268276.3:c.11867A>T	XP_005268333.1:p.Glu3956Val
XM_005268277.3:c.11867A>T	XP_005268334.1:p.Glu3956Val
XM_006720726.2:c.11966A>T	XP_006720789.1:p.Glu3989Val
XM_006720727.2:c.11723A>T	XP_006720790.1:p.Glu3908Val
XM_011522131.1:c.11498A>T	XP_011520433.1:p.Glu3833Val
XM_011522132.1:c.9497A>T	XP_011520434.1:p.Glu3166Val
XM_011522133.1:c.8726A>T	XP_011520435.1:p.Glu2909Val
XM_011522134.1:c.6098A>T	XP_011520436.1:p.Glu2033Val
XM_005268276.5:c.11867A>T	XP_005268333.1:p.Glu3956Val
XM_006720726.3:c.11966A>T	XP_006720789.1:p.Glu3989Val
XM_006720727.3:c.11723A>T	XP_006720790.1:p.Glu3908Val
XM_017022695.1:c.11867A>T	XP_016878184.1:p.Glu3956Val
XM_017022696.1:c.11867A>T	XP_016878185.1:p.Glu3956Val
XM_017022697.1:c.5147A>T	XP_016878186.1:p.Glu1716Val
XM_017022698.1:c.5147A>T	XP_016878187.1:p.Glu1716Val
NM_004667.6:c.11981A>T MANE Select	NP_004658.3:p.Glu3994Val