Canonical Allele Identifier: CA616722870

Gene: HERC2

Linked Data

• dbSNP Id: rs1555451573
• gnomAD v2: 15-28530063-C-CA
• gnomAD v3: 15-28284917-C-CA
• gnomAD v4: 15-28284917-C-CA
• MyVariant Identifiers: chr15:g.28530063_28530064insA (hg19) ; chr15:g.28284917_28284918insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284917_28284918insA , CM000677.2:g.28284917_28284918insA	GRCh38
NC_000015.9:g.28530063_28530064insA , CM000677.1:g.28530063_28530064insA	GRCh37
NC_000015.8:g.26203658_26203659insA	NCBI36
NG_016355.1:g.42232_42233insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.323-4631_323-4630insT MANE Select	ENSP00000261609.8:n.323-4631_323-4630insT
ENST00000261609.11:c.323-4631_323-4630insT	ENSP00000261609.7:n.323-4631_323-4630insT
ENST00000564383.1:n.218-4631_218-4630insT
ENST00000564734.5:c.*193-4631_*193-4630insT	ENSP00000456237.1:n.*193-4631_*193-4630insT
NM_004667.5:c.323-4631_323-4630insT	NP_004658.3:n.323-4631_323-4630insT
XM_005268276.3:c.209-4631_209-4630insT	XP_005268333.1:n.209-4631_209-4630insT
XM_005268277.3:c.209-4631_209-4630insT	XP_005268334.1:n.209-4631_209-4630insT
XM_006720726.2:c.323-4631_323-4630insT	XP_006720789.1:n.323-4631_323-4630insT
XM_006720727.2:c.323-4631_323-4630insT	XP_006720790.1:n.323-4631_323-4630insT
XM_011522133.1:c.322+7970_322+7971insT	XP_011520435.1:n.322+7970_322+7971insT
XM_011522135.1:c.323-4631_323-4630insT	XP_011520437.1:n.323-4631_323-4630insT
XM_011522136.1:c.323-4631_323-4630insT	XP_011520438.1:n.323-4631_323-4630insT
XM_011522137.1:c.323-4631_323-4630insT	XP_011520439.1:n.323-4631_323-4630insT
XR_931930.1:n.452-4631_452-4630insT
XR_931931.1:n.452-4631_452-4630insT
XM_005268276.5:c.209-4631_209-4630insT	XP_005268333.1:n.209-4631_209-4630insT
XM_006720726.3:c.323-4631_323-4630insT	XP_006720789.1:n.323-4631_323-4630insT
XM_006720727.3:c.323-4631_323-4630insT	XP_006720790.1:n.323-4631_323-4630insT
XM_017022695.1:c.209-4631_209-4630insT	XP_016878184.1:n.209-4631_209-4630insT
XM_017022696.1:c.209-4631_209-4630insT	XP_016878185.1:n.209-4631_209-4630insT
XR_001751410.1:n.453-4631_453-4630insT
XR_931930.2:n.453-4631_453-4630insT
NM_004667.6:c.323-4631_323-4630insT MANE Select	NP_004658.3:n.323-4631_323-4630insT