Canonical Allele Identifier: CA7439642

Gene: HERC2

Linked Data

• dbSNP Id: rs377563287
• ExAC: 15:28356898 G / A
• gnomAD v2: 15-28356898-G-A
• gnomAD v3: 15-28111752-G-A
• gnomAD v4: 15-28111752-G-A
• MyVariant Identifiers: chr15:g.28356898G>A (hg19) ; chr15:g.28111752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28111752G>A , CM000677.2:g.28111752G>A	GRCh38
NC_000015.9:g.28356898G>A , CM000677.1:g.28356898G>A	GRCh37
NC_000015.8:g.26030493G>A	NCBI36
NG_016355.1:g.215398C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.*11C>T MANE Select	ENSP00000261609.8:n.*11C>T
ENST00000650509.1:c.5995C>T	ENSP00000496936.1:n.5995C>T
ENST00000261609.11:c.*11C>T	ENSP00000261609.7:n.*11C>T
ENST00000566635.5:n.1641C>T
NM_004667.5:c.*11C>T	NP_004658.3:n.*11C>T
XM_005268276.3:c.*11C>T	XP_005268333.1:n.*11C>T
XM_005268277.3:c.*11C>T	XP_005268334.1:n.*11C>T
XM_006720726.2:c.*11C>T	XP_006720789.1:n.*11C>T
XM_006720727.2:c.*11C>T	XP_006720790.1:n.*11C>T
XM_011522131.1:c.*11C>T	XP_011520433.1:n.*11C>T
XM_011522132.1:c.*11C>T	XP_011520434.1:n.*11C>T
XM_011522133.1:c.*11C>T	XP_011520435.1:n.*11C>T
XM_011522134.1:c.*11C>T	XP_011520436.1:n.*11C>T
XM_005268276.5:c.*11C>T	XP_005268333.1:n.*11C>T
XM_006720726.3:c.*11C>T	XP_006720789.1:n.*11C>T
XM_006720727.3:c.*11C>T	XP_006720790.1:n.*11C>T
XM_017022695.1:c.*11C>T	XP_016878184.1:n.*11C>T
XM_017022696.1:c.*11C>T	XP_016878185.1:n.*11C>T
XM_017022697.1:c.*11C>T	XP_016878186.1:n.*11C>T
XM_017022698.1:c.*11C>T	XP_016878187.1:n.*11C>T
NM_004667.6:c.*11C>T MANE Select	NP_004658.3:n.*11C>T