Canonical Allele Identifier: CA391367644

Gene: HERC2

Linked Data

• MyVariant Identifiers: chr15:g.28356909T>A (hg19) ; chr15:g.28111763T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28111763T>A , CM000677.2:g.28111763T>A	GRCh38
NC_000015.9:g.28356909T>A , CM000677.1:g.28356909T>A	GRCh37
NC_000015.8:g.26030504T>A	NCBI36
NG_016355.1:g.215387A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.14505A>T MANE Select	ENSP00000261609.8:p.Ter4835Tyr
ENST00000650509.1:c.5984A>T	ENSP00000496936.1:n.5984A>T
ENST00000261609.11:c.14505A>T	ENSP00000261609.7:p.Ter4835Tyr
ENST00000562136.1:n.631A>T
ENST00000566635.5:n.1630A>T
NM_004667.5:c.14505A>T	NP_004658.3:p.Ter4835Tyr
XM_005268276.3:c.14391A>T	XP_005268333.1:p.Ter4797Tyr
XM_005268277.3:c.14391A>T	XP_005268334.1:p.Ter4797Tyr
XM_006720726.2:c.14490A>T	XP_006720789.1:p.Ter4830Tyr
XM_006720727.2:c.14247A>T	XP_006720790.1:p.Ter4749Tyr
XM_011522131.1:c.14022A>T	XP_011520433.1:p.Ter4674Tyr
XM_011522132.1:c.12021A>T	XP_011520434.1:p.Ter4007Tyr
XM_011522133.1:c.11250A>T	XP_011520435.1:p.Ter3750Tyr
XM_011522134.1:c.8622A>T	XP_011520436.1:p.Ter2874Tyr
XM_005268276.5:c.14391A>T	XP_005268333.1:p.Ter4797Tyr
XM_006720726.3:c.14490A>T	XP_006720789.1:p.Ter4830Tyr
XM_006720727.3:c.14247A>T	XP_006720790.1:p.Ter4749Tyr
XM_017022695.1:c.14391A>T	XP_016878184.1:p.Ter4797Tyr
XM_017022696.1:c.14391A>T	XP_016878185.1:p.Ter4797Tyr
XM_017022697.1:c.7671A>T	XP_016878186.1:p.Ter2557Tyr
XM_017022698.1:c.7671A>T	XP_016878187.1:p.Ter2557Tyr
NM_004667.6:c.14505A>T MANE Select	NP_004658.3:p.Ter4835Tyr