Canonical Allele Identifier: CA711739085

Gene: HERC2

Linked Data

• dbSNP Id: rs1214937596
• gnomAD v3: 15-28285069-G-GA
• gnomAD v4: 15-28285069-G-GA
• MyVariant Identifiers: chr15:g.28530215_28530216insA (hg19) ; chr15:g.28285069_28285070insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28285072dup , CM000677.2:g.28285072dup	GRCh38
NC_000015.9:g.28530218dup , CM000677.1:g.28530218dup	GRCh37
NC_000015.8:g.26203813dup	NCBI36
NG_016355.1:g.42080dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.323-4783dup MANE Select	ENSP00000261609.8:n.323-4783dup
ENST00000261609.11:c.323-4783dup	ENSP00000261609.7:n.323-4783dup
ENST00000564383.1:n.218-4783dup
ENST00000564734.5:c.*193-4783dup	ENSP00000456237.1:n.*193-4783dup
NM_004667.5:c.323-4783dup	NP_004658.3:n.323-4783dup
XM_005268276.3:c.209-4783dup	XP_005268333.1:n.209-4783dup
XM_005268277.3:c.209-4783dup	XP_005268334.1:n.209-4783dup
XM_006720726.2:c.323-4783dup	XP_006720789.1:n.323-4783dup
XM_006720727.2:c.323-4783dup	XP_006720790.1:n.323-4783dup
XM_011522133.1:c.322+7818dup	XP_011520435.1:n.322+7818dup
XM_011522135.1:c.323-4783dup	XP_011520437.1:n.323-4783dup
XM_011522136.1:c.323-4783dup	XP_011520438.1:n.323-4783dup
XM_011522137.1:c.323-4783dup	XP_011520439.1:n.323-4783dup
XR_931930.1:n.452-4783dup
XR_931931.1:n.452-4783dup
XM_005268276.5:c.209-4783dup	XP_005268333.1:n.209-4783dup
XM_006720726.3:c.323-4783dup	XP_006720789.1:n.323-4783dup
XM_006720727.3:c.323-4783dup	XP_006720790.1:n.323-4783dup
XM_017022695.1:c.209-4783dup	XP_016878184.1:n.209-4783dup
XM_017022696.1:c.209-4783dup	XP_016878185.1:n.209-4783dup
XR_001751410.1:n.453-4783dup
XR_931930.2:n.453-4783dup
NM_004667.6:c.323-4783dup MANE Select	NP_004658.3:n.323-4783dup