Canonical Allele Identifier: CA391381257

Gene: HERC2

Linked Data

• dbSNP Id: rs1566936203
• MyVariant Identifiers: chr15:g.28386657C>T (hg19) ; chr15:g.28141511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28141511C>T , CM000677.2:g.28141511C>T	GRCh38
NC_000015.9:g.28386657C>T , CM000677.1:g.28386657C>T	GRCh37
NC_000015.8:g.26060252C>T	NCBI36
NG_016355.1:g.185639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11936G>A MANE Select	ENSP00000261609.8:p.Cys3979Tyr
ENST00000650509.1:c.3647G>A	ENSP00000496936.1:p.Cys1216Tyr
ENST00000261609.11:c.11936G>A	ENSP00000261609.7:p.Cys3979Tyr
NM_004667.5:c.11936G>A	NP_004658.3:p.Cys3979Tyr
XM_005268276.3:c.11822G>A	XP_005268333.1:p.Cys3941Tyr
XM_005268277.3:c.11822G>A	XP_005268334.1:p.Cys3941Tyr
XM_006720726.2:c.11921G>A	XP_006720789.1:p.Cys3974Tyr
XM_006720727.2:c.11678G>A	XP_006720790.1:p.Cys3893Tyr
XM_011522131.1:c.11453G>A	XP_011520433.1:p.Cys3818Tyr
XM_011522132.1:c.9452G>A	XP_011520434.1:p.Cys3151Tyr
XM_011522133.1:c.8681G>A	XP_011520435.1:p.Cys2894Tyr
XM_011522134.1:c.6053G>A	XP_011520436.1:p.Cys2018Tyr
XM_005268276.5:c.11822G>A	XP_005268333.1:p.Cys3941Tyr
XM_006720726.3:c.11921G>A	XP_006720789.1:p.Cys3974Tyr
XM_006720727.3:c.11678G>A	XP_006720790.1:p.Cys3893Tyr
XM_017022695.1:c.11822G>A	XP_016878184.1:p.Cys3941Tyr
XM_017022696.1:c.11822G>A	XP_016878185.1:p.Cys3941Tyr
XM_017022697.1:c.5102G>A	XP_016878186.1:p.Cys1701Tyr
XM_017022698.1:c.5102G>A	XP_016878187.1:p.Cys1701Tyr
NM_004667.6:c.11936G>A MANE Select	NP_004658.3:p.Cys3979Tyr