Canonical Allele Identifier: CA344833944
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215953290C>G (hg19) chr1:g.215779948C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215779948C>G , CM000663.2:g.215779948C>G GRCh38
NC_000001.10:g.215953290C>G , CM000663.1:g.215953290C>G GRCh37
NC_000001.9:g.214019913C>G NCBI36
NG_009497.1:g.648449G>C
NG_009497.2:g.648501G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.10834G>C MANE Select ENSP00000305941.3:p.Val3612Leu
ENST00000674083.1:c.10834G>C ENSP00000501296.1:p.Val3612Leu
ENST00000307340.7:c.10834G>C ENSP00000305941.3:p.Val3612Leu
NM_206933.2:c.10834G>C NP_996816.2:p.Val3612Leu
NM_206933.3:c.10834G>C NP_996816.2:p.Val3612Leu
NM_206933.4:c.10834G>C MANE Select NP_996816.3:p.Val3612Leu
Search 100 bp 5'
Search 100 bp 3'