Canonical Allele Identifier: CA968043104

Gene: HERC2

Linked Data

• dbSNP Id: rs2075617304
• gnomAD v3: 15-28268046-GATA-G
• gnomAD v4: 15-28268046-GATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28268050_28268052del , CM000677.2:g.28268050_28268052del	GRCh38
NC_000015.9:g.28513196_28513198del , CM000677.1:g.28513196_28513198del	GRCh37
NC_000015.8:g.26186791_26186793del	NCBI36
NG_016355.1:g.59101_59103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.1598+416_1598+418del MANE Select	ENSP00000261609.8:n.1598+416_1598+418del
ENST00000261609.11:c.1598+416_1598+418del	ENSP00000261609.7:n.1598+416_1598+418del
ENST00000564734.5:c.*1468+416_*1468+418del	ENSP00000456237.1:n.*1468+416_*1468+418del
NM_004667.5:c.1598+416_1598+418del	NP_004658.3:n.1598+416_1598+418del
XM_005268276.3:c.1484+416_1484+418del	XP_005268333.1:n.1484+416_1484+418del
XM_005268277.3:c.1484+416_1484+418del	XP_005268334.1:n.1484+416_1484+418del
XM_006720726.2:c.1598+416_1598+418del	XP_006720789.1:n.1598+416_1598+418del
XM_006720727.2:c.1340+416_1340+418del	XP_006720790.1:n.1340+416_1340+418del
XM_011522131.1:c.1115+416_1115+418del	XP_011520433.1:n.1115+416_1115+418del
XM_011522132.1:c.107+4166_107+4168del	XP_011520434.1:n.107+4166_107+4168del
XM_011522133.1:c.322+24839_322+24841del	XP_011520435.1:n.322+24839_322+24841del
XM_011522135.1:c.1598+416_1598+418del	XP_011520437.1:n.1598+416_1598+418del
XM_011522136.1:c.1598+416_1598+418del	XP_011520438.1:n.1598+416_1598+418del
XM_011522137.1:c.1598+416_1598+418del	XP_011520439.1:n.1598+416_1598+418del
XR_931930.1:n.1727+416_1727+418del
XR_931931.1:n.1727+416_1727+418del
XM_005268276.5:c.1484+416_1484+418del	XP_005268333.1:n.1484+416_1484+418del
XM_006720726.3:c.1598+416_1598+418del	XP_006720789.1:n.1598+416_1598+418del
XM_006720727.3:c.1340+416_1340+418del	XP_006720790.1:n.1340+416_1340+418del
XM_017022695.1:c.1484+416_1484+418del	XP_016878184.1:n.1484+416_1484+418del
XM_017022696.1:c.1484+416_1484+418del	XP_016878185.1:n.1484+416_1484+418del
XR_001751410.1:n.1728+416_1728+418del
XR_931930.2:n.1728+416_1728+418del
NM_004667.6:c.1598+416_1598+418del MANE Select	NP_004658.3:n.1598+416_1598+418del