Canonical Allele Identifier: CA249420

Gene: HERC2

Linked Data

• ClinVar Variation Id: 218647
• ClinVar RCV Id: RCV000203211 ; RCV000727185 ; RCV003147405
• dbSNP Id: rs200632307
• ExAC: 15:28501145 G / T
• gnomAD v2: 15-28501145-G-T
• gnomAD v3: 15-28255999-G-T
• gnomAD v4: 15-28255999-G-T
• MyVariant Identifiers: chr15:g.28501145G>T (hg19) ; chr15:g.28255999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28255999G>T , CM000677.2:g.28255999G>T	GRCh38
NC_000015.9:g.28501145G>T , CM000677.1:g.28501145G>T	GRCh37
NC_000015.8:g.26174740G>T	NCBI36
NG_016355.1:g.71151C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.2747-3C>A MANE Select	ENSP00000261609.8:n.2747-3C>A
ENST00000261609.11:c.2747-3C>A	ENSP00000261609.7:n.2747-3C>A
ENST00000564734.5:c.*2617-3C>A	ENSP00000456237.1:n.*2617-3C>A
NM_004667.5:c.2747-3C>A	NP_004658.3:n.2747-3C>A
XM_005268276.3:c.2633-3C>A	XP_005268333.1:n.2633-3C>A
XM_005268277.3:c.2633-3C>A	XP_005268334.1:n.2633-3C>A
XM_006720726.2:c.2747-3C>A	XP_006720789.1:n.2747-3C>A
XM_006720727.2:c.2489-3C>A	XP_006720790.1:n.2489-3C>A
XM_011522131.1:c.2264-3C>A	XP_011520433.1:n.2264-3C>A
XM_011522132.1:c.263-3C>A	XP_011520434.1:n.263-3C>A
XM_011522133.1:c.323-17227C>A	XP_011520435.1:n.323-17227C>A
XM_011522135.1:c.2747-3C>A	XP_011520437.1:n.2747-3C>A
XM_011522136.1:c.2747-3C>A	XP_011520438.1:n.2747-3C>A
XM_011522137.1:c.2747-3C>A	XP_011520439.1:n.2747-3C>A
XR_931930.1:n.2876-3C>A
XR_931931.1:n.2876-3C>A
XM_005268276.5:c.2633-3C>A	XP_005268333.1:n.2633-3C>A
XM_006720726.3:c.2747-3C>A	XP_006720789.1:n.2747-3C>A
XM_006720727.3:c.2489-3C>A	XP_006720790.1:n.2489-3C>A
XM_017022695.1:c.2633-3C>A	XP_016878184.1:n.2633-3C>A
XM_017022696.1:c.2633-3C>A	XP_016878185.1:n.2633-3C>A
XR_001751410.1:n.2877-3C>A
XR_931930.2:n.2877-3C>A
NM_004667.6:c.2747-3C>A MANE Select	NP_004658.3:n.2747-3C>A