Canonical Allele Identifier: CA344826816
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1293573842
gnomAD v2: 1-215901391-A-G
gnomAD v4: 1-215728049-A-G
MyVariant Identifiers: chr1:g.215901391A>G (hg19) chr1:g.215728049A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728049A>G , CM000663.2:g.215728049A>G GRCh38
NC_000001.10:g.215901391A>G , CM000663.1:g.215901391A>G GRCh37
NC_000001.9:g.213968014A>G NCBI36
NG_009497.1:g.700348T>C
NG_009497.2:g.700400T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12047T>C MANE Select ENSP00000305941.3:p.Val4016Ala
ENST00000674083.1:c.12047T>C ENSP00000501296.1:p.Val4016Ala
ENST00000307340.7:c.12047T>C ENSP00000305941.3:p.Val4016Ala
NM_206933.2:c.12047T>C NP_996816.2:p.Val4016Ala
NM_206933.3:c.12047T>C NP_996816.2:p.Val4016Ala
NM_206933.4:c.12047T>C MANE Select NP_996816.3:p.Val4016Ala
Search 100 bp 5'
Search 100 bp 3'