Canonical Allele Identifier: CA391380993

Gene: HERC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11981A>G MANE Select	ENSP00000261609.8:p.Glu3994Gly
ENST00000650509.1:c.3692A>G	ENSP00000496936.1:p.Glu1231Gly
ENST00000261609.11:c.11981A>G	ENSP00000261609.7:p.Glu3994Gly
NM_004667.5:c.11981A>G	NP_004658.3:p.Glu3994Gly
XM_005268276.3:c.11867A>G	XP_005268333.1:p.Glu3956Gly
XM_005268277.3:c.11867A>G	XP_005268334.1:p.Glu3956Gly
XM_006720726.2:c.11966A>G	XP_006720789.1:p.Glu3989Gly
XM_006720727.2:c.11723A>G	XP_006720790.1:p.Glu3908Gly
XM_011522131.1:c.11498A>G	XP_011520433.1:p.Glu3833Gly
XM_011522132.1:c.9497A>G	XP_011520434.1:p.Glu3166Gly
XM_011522133.1:c.8726A>G	XP_011520435.1:p.Glu2909Gly
XM_011522134.1:c.6098A>G	XP_011520436.1:p.Glu2033Gly
XM_005268276.5:c.11867A>G	XP_005268333.1:p.Glu3956Gly
XM_006720726.3:c.11966A>G	XP_006720789.1:p.Glu3989Gly
XM_006720727.3:c.11723A>G	XP_006720790.1:p.Glu3908Gly
XM_017022695.1:c.11867A>G	XP_016878184.1:p.Glu3956Gly
XM_017022696.1:c.11867A>G	XP_016878185.1:p.Glu3956Gly
XM_017022697.1:c.5147A>G	XP_016878186.1:p.Glu1716Gly
XM_017022698.1:c.5147A>G	XP_016878187.1:p.Glu1716Gly
NM_004667.6:c.11981A>G MANE Select	NP_004658.3:p.Glu3994Gly