Canonical Allele Identifier: CA584821736

Gene: ZHX2

Linked Data

• dbSNP Id: rs1290185699
• gnomAD v2: 8-123973055-AAGG-A
• gnomAD v3: 8-122960815-AAGG-A
• gnomAD v4: 8-122960815-AAGG-A
• MyVariant Identifiers: chr8:g.123973056_123973058del (hg19) ; chr8:g.122960816_122960818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.122960818_122960820del , CM000670.2:g.122960818_122960820del	GRCh38
NC_000008.10:g.123973058_123973060del , CM000670.1:g.123973058_123973060del	GRCh37
NC_000008.9:g.124042239_124042241del	NCBI36
NG_046951.1:g.184470_184472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314393.6:c.*4+6790_*4+6792del MANE Select	ENSP00000314709.4:n.*4+6790_*4+6792del
ENST00000314393.5:c.*4+6790_*4+6792del	ENSP00000314709.4:n.*4+6790_*4+6792del
NM_014943.3:c.*4+6790_*4+6792del	NP_055758.1:n.*4+6790_*4+6792del
XM_005250836.3:c.*4+6790_*4+6792del	XP_005250893.1:n.*4+6790_*4+6792del
XM_005250837.3:c.*4+6790_*4+6792del	XP_005250894.1:n.*4+6790_*4+6792del
XM_011516931.1:c.*4+6790_*4+6792del	XP_011515233.1:n.*4+6790_*4+6792del
XM_011516932.1:c.*4+6790_*4+6792del	XP_011515234.1:n.*4+6790_*4+6792del
NM_001362797.1:c.*4+6790_*4+6792del	NP_001349726.1:n.*4+6790_*4+6792del
NM_014943.4:c.*4+6790_*4+6792del	NP_055758.1:n.*4+6790_*4+6792del
XM_005250836.5:c.*4+6790_*4+6792del	XP_005250893.1:n.*4+6790_*4+6792del
XM_011516932.3:c.*4+6790_*4+6792del	XP_011515234.1:n.*4+6790_*4+6792del
NM_014943.5:c.*4+6790_*4+6792del MANE Select	NP_055758.1:n.*4+6790_*4+6792del
NM_001362797.2:c.*4+6790_*4+6792del	NP_001349726.1:n.*4+6790_*4+6792del