Canonical Allele Identifier: CA344828127
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215901484C>A (hg19) chr1:g.215728142C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728142C>A , CM000663.2:g.215728142C>A GRCh38
NC_000001.10:g.215901484C>A , CM000663.1:g.215901484C>A GRCh37
NC_000001.9:g.213968107C>A NCBI36
NG_009497.1:g.700255G>T
NG_009497.2:g.700307G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11954G>T MANE Select ENSP00000305941.3:p.Trp3985Leu
ENST00000674083.1:c.11954G>T ENSP00000501296.1:p.Trp3985Leu
ENST00000307340.7:c.11954G>T ENSP00000305941.3:p.Trp3985Leu
NM_206933.2:c.11954G>T NP_996816.2:p.Trp3985Leu
NM_206933.3:c.11954G>T NP_996816.2:p.Trp3985Leu
NM_206933.4:c.11954G>T MANE Select NP_996816.3:p.Trp3985Leu
Search 100 bp 5'
Search 100 bp 3'