Canonical Allele Identifier: CA711769668

Gene: HERC2

Linked Data

• dbSNP Id: rs1163265749
• gnomAD v3: 15-28243780-G-A
• gnomAD v4: 15-28243780-G-A
• MyVariant Identifiers: chr15:g.28488926G>A (hg19) ; chr15:g.28243780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28243780G>A , CM000677.2:g.28243780G>A	GRCh38
NC_000015.9:g.28488926G>A , CM000677.1:g.28488926G>A	GRCh37
NC_000015.8:g.26162521G>A	NCBI36
NG_016355.1:g.83370C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261609.13:c.3577+2101C>T MANE Select	ENSP00000261609.8:n.3577+2101C>T
ENST00000261609.11:c.3577+2101C>T	ENSP00000261609.7:n.3577+2101C>T
NM_004667.5:c.3577+2101C>T	NP_004658.3:n.3577+2101C>T
XM_005268276.3:c.3463+2101C>T	XP_005268333.1:n.3463+2101C>T
XM_005268277.3:c.3463+2101C>T	XP_005268334.1:n.3463+2101C>T
XM_006720726.2:c.3577+2101C>T	XP_006720789.1:n.3577+2101C>T
XM_006720727.2:c.3319+2101C>T	XP_006720790.1:n.3319+2101C>T
XM_011522131.1:c.3094+2101C>T	XP_011520433.1:n.3094+2101C>T
XM_011522132.1:c.1093+2101C>T	XP_011520434.1:n.1093+2101C>T
XM_011522133.1:c.323-5008C>T	XP_011520435.1:n.323-5008C>T
XM_011522135.1:c.3577+2101C>T	XP_011520437.1:n.3577+2101C>T
XM_011522136.1:c.3577+2101C>T	XP_011520438.1:n.3577+2101C>T
XM_011522137.1:c.3577+2101C>T	XP_011520439.1:n.3577+2101C>T
XR_931930.1:n.3706+2101C>T
XR_931931.1:n.3706+2101C>T
XM_005268276.5:c.3463+2101C>T	XP_005268333.1:n.3463+2101C>T
XM_006720726.3:c.3577+2101C>T	XP_006720789.1:n.3577+2101C>T
XM_006720727.3:c.3319+2101C>T	XP_006720790.1:n.3319+2101C>T
XM_017022695.1:c.3463+2101C>T	XP_016878184.1:n.3463+2101C>T
XM_017022696.1:c.3463+2101C>T	XP_016878185.1:n.3463+2101C>T
XR_001751410.1:n.3707+2101C>T
XR_931930.2:n.3707+2101C>T
NM_004667.6:c.3577+2101C>T MANE Select	NP_004658.3:n.3577+2101C>T