Canonical Allele Identifier: CA731336904
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1176316242
MyVariant Identifiers: chr1:g.215848510_215848514del (hg19) chr1:g.215675168_215675172del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675168_215675172del , CM000663.2:g.215675168_215675172del GRCh38
NC_000001.10:g.215848510_215848514del , CM000663.1:g.215848510_215848514del GRCh37
NC_000001.9:g.213915133_213915137del NCBI36
NG_009497.1:g.753225_753229del
NG_009497.2:g.753277_753281del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12739_12743del MANE Select ENSP00000305941.3:p.Gly4247TyrfsTer3
ENST00000674083.1:c.12739_12743del ENSP00000501296.1:p.Gly4247TyrfsTer3
ENST00000307340.7:c.12739_12743del ENSP00000305941.3:p.Gly4247TyrfsTer3
NM_206933.2:c.12739_12743del NP_996816.2:p.Gly4247TyrfsTer3
NM_206933.3:c.12739_12743del NP_996816.2:p.Gly4247TyrfsTer3
NM_206933.4:c.12739_12743del MANE Select NP_996816.3:p.Gly4247TyrfsTer3
Search 100 bp 5'
Search 100 bp 3'