Canonical Allele Identifier: CA391382048

Gene: HERC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11707A>T MANE Select	ENSP00000261609.8:p.Lys3903Ter
ENST00000650509.1:c.3418A>T	ENSP00000496936.1:p.Lys1140Ter
ENST00000261609.11:c.11707A>T	ENSP00000261609.7:p.Lys3903Ter
ENST00000564519.1:n.222A>T
NM_004667.5:c.11707A>T	NP_004658.3:p.Lys3903Ter
XM_005268276.3:c.11593A>T	XP_005268333.1:p.Lys3865Ter
XM_005268277.3:c.11593A>T	XP_005268334.1:p.Lys3865Ter
XM_006720726.2:c.11692A>T	XP_006720789.1:p.Lys3898Ter
XM_006720727.2:c.11449A>T	XP_006720790.1:p.Lys3817Ter
XM_011522131.1:c.11224A>T	XP_011520433.1:p.Lys3742Ter
XM_011522132.1:c.9223A>T	XP_011520434.1:p.Lys3075Ter
XM_011522133.1:c.8452A>T	XP_011520435.1:p.Lys2818Ter
XM_011522134.1:c.5824A>T	XP_011520436.1:p.Lys1942Ter
XM_005268276.5:c.11593A>T	XP_005268333.1:p.Lys3865Ter
XM_006720726.3:c.11692A>T	XP_006720789.1:p.Lys3898Ter
XM_006720727.3:c.11449A>T	XP_006720790.1:p.Lys3817Ter
XM_017022695.1:c.11593A>T	XP_016878184.1:p.Lys3865Ter
XM_017022696.1:c.11593A>T	XP_016878185.1:p.Lys3865Ter
XM_017022697.1:c.4873A>T	XP_016878186.1:p.Lys1625Ter
XM_017022698.1:c.4873A>T	XP_016878187.1:p.Lys1625Ter
NM_004667.6:c.11707A>T MANE Select	NP_004658.3:p.Lys3903Ter