Canonical Allele Identifier: CA919520636

Gene: HERC2

Linked Data

• dbSNP Id: rs1567117193

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284949_28284950insAAAAAAAAAAAACAAAAAAAAAAAA , CM000677.2:g.28284949_28284950insAAAAAAAAAAAACAAAAAAAAAAAA	GRCh38
NC_000015.9:g.28530095_28530096insAAAAAAAAAAAACAAAAAAAAAAAA , CM000677.1:g.28530095_28530096insAAAAAAAAAAAACAAAAAAAAAAAA	GRCh37
NC_000015.8:g.26203690_26203691insAAAAAAAAAAAACAAAAAAAAAAAA	NCBI36
NG_016355.1:g.42212_42213insGTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000261609.8:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTT...
ENST00000261609.11:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000261609.7:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTT...
ENST00000564383.1:n.218-4651_218-4650insGTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000564734.5:c.*193-4651_*193-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000456237.1:n.*193-4651_*193-4650insGTTTTTTTTTTTTTTTTTT...
NM_004667.5:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	NP_004658.3:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT
XM_005268276.3:c.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_005268333.1:n.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_005268277.3:c.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_005268334.1:n.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_006720726.2:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720789.1:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_006720727.2:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720790.1:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_011522133.1:c.322+7950_322+7951insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520435.1:n.322+7950_322+7951insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_011522135.1:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520437.1:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_011522136.1:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520438.1:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_011522137.1:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_011520439.1:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XR_931930.1:n.452-4651_452-4650insGTTTTTTTTTTTTTTTTTTTTTTTT
XR_931931.1:n.452-4651_452-4650insGTTTTTTTTTTTTTTTTTTTTTTTT
XM_005268276.5:c.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_005268333.1:n.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_006720726.3:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720789.1:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_006720727.3:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_006720790.1:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017022695.1:c.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_016878184.1:n.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XM_017022696.1:c.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTTT	XP_016878185.1:n.209-4651_209-4650insGTTTTTTTTTTTTTTTTTTTTTTT...
XR_001751410.1:n.453-4651_453-4650insGTTTTTTTTTTTTTTTTTTTTTTTT
XR_931930.2:n.453-4651_453-4650insGTTTTTTTTTTTTTTTTTTTTTTTT
NM_004667.6:c.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_004658.3:n.323-4651_323-4650insGTTTTTTTTTTTTTTTTTTTTTTTT