Canonical Allele Identifier: CA7439645

Gene: HERC2

Linked Data

• dbSNP Id: rs781490049
• ExAC: 15:28356906 ATCTTAGTGTCC / A
• gnomAD v2: 15-28356906-ATCTTAGTGTCC-A
• gnomAD v3: 15-28111760-ATCTTAGTGTCC-A
• gnomAD v4: 15-28111760-ATCTTAGTGTCC-A
• MyVariant Identifiers: chr15:g.28356907_28356917del (hg19) ; chr15:g.28111761_28111771del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28111762_28111772del , CM000677.2:g.28111762_28111772del	GRCh38
NC_000015.9:g.28356908_28356918del , CM000677.1:g.28356908_28356918del	GRCh37
NC_000015.8:g.26030503_26030513del	NCBI36
NG_016355.1:g.215379_215389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.14497_*2del MANE Select	ENSP00000261609.8:n.[c.14497_*2del;Gly4833TrpfsTer8]
ENST00000650509.1:c.5976_5986del	ENSP00000496936.1:n.5976_5986del
ENST00000261609.11:c.14497_*2del	ENSP00000261609.7:n.[c.14497_*2del;Gly4833TrpfsTer8]
ENST00000566635.5:n.1622_1632del
NM_004667.5:c.14497_*2del	NP_004658.3:n.[c.14497_*2del;Gly4833TrpfsTer8]
XM_005268276.3:c.14383_*2del	XP_005268333.1:n.[c.14383_*2del;Gly4795TrpfsTer8]
XM_005268277.3:c.14383_*2del	XP_005268334.1:n.[c.14383_*2del;Gly4795TrpfsTer8]
XM_006720726.2:c.14482_*2del	XP_006720789.1:n.[c.14482_*2del;Gly4828TrpfsTer8]
XM_006720727.2:c.14239_*2del	XP_006720790.1:n.[c.14239_*2del;Gly4747TrpfsTer8]
XM_011522131.1:c.14014_*2del	XP_011520433.1:n.[c.14014_*2del;Gly4672TrpfsTer8]
XM_011522132.1:c.12013_*2del	XP_011520434.1:n.[c.12013_*2del;Gly4005TrpfsTer8]
XM_011522133.1:c.11242_*2del	XP_011520435.1:n.[c.11242_*2del;Gly3748TrpfsTer8]
XM_011522134.1:c.8614_*2del	XP_011520436.1:n.[c.8614_*2del;Gly2872TrpfsTer8]
XM_005268276.5:c.14383_*2del	XP_005268333.1:n.[c.14383_*2del;Gly4795TrpfsTer8]
XM_006720726.3:c.14482_*2del	XP_006720789.1:n.[c.14482_*2del;Gly4828TrpfsTer8]
XM_006720727.3:c.14239_*2del	XP_006720790.1:n.[c.14239_*2del;Gly4747TrpfsTer8]
XM_017022695.1:c.14383_*2del	XP_016878184.1:n.[c.14383_*2del;Gly4795TrpfsTer8]
XM_017022696.1:c.14383_*2del	XP_016878185.1:n.[c.14383_*2del;Gly4795TrpfsTer8]
XM_017022697.1:c.7663_*2del	XP_016878186.1:n.[c.7663_*2del;Gly2555TrpfsTer8]
XM_017022698.1:c.7663_*2del	XP_016878187.1:n.[c.7663_*2del;Gly2555TrpfsTer8]
NM_004667.6:c.14497_*2del MANE Select	NP_004658.3:n.[c.14497_*2del;Gly4833TrpfsTer8]