Canonical Allele Identifier: CA711721683

Gene: HERC2

Linked Data

• dbSNP Id: rs1435593806
• gnomAD v3: 15-28182804-ACCAACGTG-A
• gnomAD v4: 15-28182804-ACCAACGTG-A
• MyVariant Identifiers: chr15:g.28427951_28427958del (hg19) ; chr15:g.28182805_28182812del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28182805_28182812del , CM000677.2:g.28182805_28182812del	GRCh38
NC_000015.9:g.28427951_28427958del , CM000677.1:g.28427951_28427958del	GRCh37
NC_000015.8:g.26101546_26101553del	NCBI36
NG_016355.1:g.144338_144345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.8826-300_8826-293del MANE Select	ENSP00000261609.8:n.8826-300_8826-293del
ENST00000650509.1:c.537-300_537-293del	ENSP00000496936.1:n.537-300_537-293del
ENST00000261609.11:c.8826-300_8826-293del	ENSP00000261609.7:n.8826-300_8826-293del
NM_004667.5:c.8826-300_8826-293del	NP_004658.3:n.8826-300_8826-293del
XM_005268276.3:c.8712-300_8712-293del	XP_005268333.1:n.8712-300_8712-293del
XM_005268277.3:c.8712-300_8712-293del	XP_005268334.1:n.8712-300_8712-293del
XM_006720726.2:c.8811-300_8811-293del	XP_006720789.1:n.8811-300_8811-293del
XM_006720727.2:c.8568-300_8568-293del	XP_006720790.1:n.8568-300_8568-293del
XM_011522131.1:c.8343-300_8343-293del	XP_011520433.1:n.8343-300_8343-293del
XM_011522132.1:c.6342-300_6342-293del	XP_011520434.1:n.6342-300_6342-293del
XM_011522133.1:c.5571-300_5571-293del	XP_011520435.1:n.5571-300_5571-293del
XM_011522134.1:c.2943-300_2943-293del	XP_011520436.1:n.2943-300_2943-293del
XR_931930.1:n.8955-300_8955-293del
XM_005268276.5:c.8712-300_8712-293del	XP_005268333.1:n.8712-300_8712-293del
XM_006720726.3:c.8811-300_8811-293del	XP_006720789.1:n.8811-300_8811-293del
XM_006720727.3:c.8568-300_8568-293del	XP_006720790.1:n.8568-300_8568-293del
XM_017022695.1:c.8712-300_8712-293del	XP_016878184.1:n.8712-300_8712-293del
XM_017022696.1:c.8712-300_8712-293del	XP_016878185.1:n.8712-300_8712-293del
XM_017022697.1:c.1992-300_1992-293del	XP_016878186.1:n.1992-300_1992-293del
XM_017022698.1:c.1992-300_1992-293del	XP_016878187.1:n.1992-300_1992-293del
XR_931930.2:n.8956-300_8956-293del
NM_004667.6:c.8826-300_8826-293del MANE Select	NP_004658.3:n.8826-300_8826-293del