Canonical Allele Identifier: CA391381255

Gene: HERC2

Linked Data

• dbSNP Id: rs1566936203
• gnomAD v3: 15-28141511-C-A
• gnomAD v4: 15-28141511-C-A
• MyVariant Identifiers: chr15:g.28386657C>A (hg19) ; chr15:g.28141511C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.11936G>T MANE Select	ENSP00000261609.8:p.Cys3979Phe
ENST00000650509.1:c.3647G>T	ENSP00000496936.1:p.Cys1216Phe
ENST00000261609.11:c.11936G>T	ENSP00000261609.7:p.Cys3979Phe
NM_004667.5:c.11936G>T	NP_004658.3:p.Cys3979Phe
XM_005268276.3:c.11822G>T	XP_005268333.1:p.Cys3941Phe
XM_005268277.3:c.11822G>T	XP_005268334.1:p.Cys3941Phe
XM_006720726.2:c.11921G>T	XP_006720789.1:p.Cys3974Phe
XM_006720727.2:c.11678G>T	XP_006720790.1:p.Cys3893Phe
XM_011522131.1:c.11453G>T	XP_011520433.1:p.Cys3818Phe
XM_011522132.1:c.9452G>T	XP_011520434.1:p.Cys3151Phe
XM_011522133.1:c.8681G>T	XP_011520435.1:p.Cys2894Phe
XM_011522134.1:c.6053G>T	XP_011520436.1:p.Cys2018Phe
XM_005268276.5:c.11822G>T	XP_005268333.1:p.Cys3941Phe
XM_006720726.3:c.11921G>T	XP_006720789.1:p.Cys3974Phe
XM_006720727.3:c.11678G>T	XP_006720790.1:p.Cys3893Phe
XM_017022695.1:c.11822G>T	XP_016878184.1:p.Cys3941Phe
XM_017022696.1:c.11822G>T	XP_016878185.1:p.Cys3941Phe
XM_017022697.1:c.5102G>T	XP_016878186.1:p.Cys1701Phe
XM_017022698.1:c.5102G>T	XP_016878187.1:p.Cys1701Phe
NM_004667.6:c.11936G>T MANE Select	NP_004658.3:p.Cys3979Phe