Canonical Allele Identifier: CA267957263

Gene: HERC2

Linked Data

• dbSNP Id: rs190347462
• gnomAD v2: 15-28530221-A-G
• gnomAD v3: 15-28285075-A-G
• gnomAD v4: 15-28285075-A-G
• MyVariant Identifiers: chr15:g.28530221A>G (hg19) ; chr15:g.28285075A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28285075A>G , CM000677.2:g.28285075A>G	GRCh38
NC_000015.9:g.28530221A>G , CM000677.1:g.28530221A>G	GRCh37
NC_000015.8:g.26203816A>G	NCBI36
NG_016355.1:g.42075T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.323-4788T>C MANE Select	ENSP00000261609.8:n.323-4788T>C
ENST00000261609.11:c.323-4788T>C	ENSP00000261609.7:n.323-4788T>C
ENST00000564383.1:n.218-4788T>C
ENST00000564734.5:c.*193-4788T>C	ENSP00000456237.1:n.*193-4788T>C
NM_004667.5:c.323-4788T>C	NP_004658.3:n.323-4788T>C
XM_005268276.3:c.209-4788T>C	XP_005268333.1:n.209-4788T>C
XM_005268277.3:c.209-4788T>C	XP_005268334.1:n.209-4788T>C
XM_006720726.2:c.323-4788T>C	XP_006720789.1:n.323-4788T>C
XM_006720727.2:c.323-4788T>C	XP_006720790.1:n.323-4788T>C
XM_011522133.1:c.322+7813T>C	XP_011520435.1:n.322+7813T>C
XM_011522135.1:c.323-4788T>C	XP_011520437.1:n.323-4788T>C
XM_011522136.1:c.323-4788T>C	XP_011520438.1:n.323-4788T>C
XM_011522137.1:c.323-4788T>C	XP_011520439.1:n.323-4788T>C
XR_931930.1:n.452-4788T>C
XR_931931.1:n.452-4788T>C
XM_005268276.5:c.209-4788T>C	XP_005268333.1:n.209-4788T>C
XM_006720726.3:c.323-4788T>C	XP_006720789.1:n.323-4788T>C
XM_006720727.3:c.323-4788T>C	XP_006720790.1:n.323-4788T>C
XM_017022695.1:c.209-4788T>C	XP_016878184.1:n.209-4788T>C
XM_017022696.1:c.209-4788T>C	XP_016878185.1:n.209-4788T>C
XR_001751410.1:n.453-4788T>C
XR_931930.2:n.453-4788T>C
NM_004667.6:c.323-4788T>C MANE Select	NP_004658.3:n.323-4788T>C