Canonical Allele Identifier: CA616712800

Gene: HERC2

Linked Data

• dbSNP Id: rs1268510427
• gnomAD v2: 15-28428218-C-T
• gnomAD v3: 15-28183072-C-T
• gnomAD v4: 15-28183072-C-T
• MyVariant Identifiers: chr15:g.28428218C>T (hg19) ; chr15:g.28183072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28183072C>T , CM000677.2:g.28183072C>T	GRCh38
NC_000015.9:g.28428218C>T , CM000677.1:g.28428218C>T	GRCh37
NC_000015.8:g.26101813C>T	NCBI36
NG_016355.1:g.144078G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.8826-560G>A MANE Select	ENSP00000261609.8:n.8826-560G>A
ENST00000650509.1:c.537-560G>A	ENSP00000496936.1:n.537-560G>A
ENST00000261609.11:c.8826-560G>A	ENSP00000261609.7:n.8826-560G>A
NM_004667.5:c.8826-560G>A	NP_004658.3:n.8826-560G>A
XM_005268276.3:c.8712-560G>A	XP_005268333.1:n.8712-560G>A
XM_005268277.3:c.8712-560G>A	XP_005268334.1:n.8712-560G>A
XM_006720726.2:c.8811-560G>A	XP_006720789.1:n.8811-560G>A
XM_006720727.2:c.8568-560G>A	XP_006720790.1:n.8568-560G>A
XM_011522131.1:c.8343-560G>A	XP_011520433.1:n.8343-560G>A
XM_011522132.1:c.6342-560G>A	XP_011520434.1:n.6342-560G>A
XM_011522133.1:c.5571-560G>A	XP_011520435.1:n.5571-560G>A
XM_011522134.1:c.2943-560G>A	XP_011520436.1:n.2943-560G>A
XR_931930.1:n.8955-560G>A
XM_005268276.5:c.8712-560G>A	XP_005268333.1:n.8712-560G>A
XM_006720726.3:c.8811-560G>A	XP_006720789.1:n.8811-560G>A
XM_006720727.3:c.8568-560G>A	XP_006720790.1:n.8568-560G>A
XM_017022695.1:c.8712-560G>A	XP_016878184.1:n.8712-560G>A
XM_017022696.1:c.8712-560G>A	XP_016878185.1:n.8712-560G>A
XM_017022697.1:c.1992-560G>A	XP_016878186.1:n.1992-560G>A
XM_017022698.1:c.1992-560G>A	XP_016878187.1:n.1992-560G>A
XR_931930.2:n.8956-560G>A
NM_004667.6:c.8826-560G>A MANE Select	NP_004658.3:n.8826-560G>A