Canonical Allele Identifier: CA391382049

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28386986T>C (hg19) ; chr15:g.28141840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141840T>C , CM000677.2:g.28141840T>C	GRCh38
NC_000015.9:g.28386986T>C , CM000677.1:g.28386986T>C	GRCh37
NC_000015.8:g.26060581T>C	NCBI36
NG_016355.1:g.185310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11707A>G MANE Select	ENSP00000261609.8:p.Lys3903Glu
ENST00000650509.1:c.3418A>G	ENSP00000496936.1:p.Lys1140Glu
ENST00000261609.11:c.11707A>G	ENSP00000261609.7:p.Lys3903Glu
ENST00000564519.1:n.222A>G
NM_004667.5:c.11707A>G	NP_004658.3:p.Lys3903Glu
XM_005268276.3:c.11593A>G	XP_005268333.1:p.Lys3865Glu
XM_005268277.3:c.11593A>G	XP_005268334.1:p.Lys3865Glu
XM_006720726.2:c.11692A>G	XP_006720789.1:p.Lys3898Glu
XM_006720727.2:c.11449A>G	XP_006720790.1:p.Lys3817Glu
XM_011522131.1:c.11224A>G	XP_011520433.1:p.Lys3742Glu
XM_011522132.1:c.9223A>G	XP_011520434.1:p.Lys3075Glu
XM_011522133.1:c.8452A>G	XP_011520435.1:p.Lys2818Glu
XM_011522134.1:c.5824A>G	XP_011520436.1:p.Lys1942Glu
XM_005268276.5:c.11593A>G	XP_005268333.1:p.Lys3865Glu
XM_006720726.3:c.11692A>G	XP_006720789.1:p.Lys3898Glu
XM_006720727.3:c.11449A>G	XP_006720790.1:p.Lys3817Glu
XM_017022695.1:c.11593A>G	XP_016878184.1:p.Lys3865Glu
XM_017022696.1:c.11593A>G	XP_016878185.1:p.Lys3865Glu
XM_017022697.1:c.4873A>G	XP_016878186.1:p.Lys1625Glu
XM_017022698.1:c.4873A>G	XP_016878187.1:p.Lys1625Glu
NM_004667.6:c.11707A>G MANE Select	NP_004658.3:p.Lys3903Glu