Canonical Allele Identifier: CA423314590
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1213950694
gnomAD v2: 1-215916523-T-C
gnomAD v4: 1-215743181-T-C
MyVariant Identifiers: chr1:g.215916523T>C (hg19) chr1:g.215743181T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215743181T>C , CM000663.2:g.215743181T>C GRCh38
NC_000001.10:g.215916523T>C , CM000663.1:g.215916523T>C GRCh37
NC_000001.9:g.213983146T>C NCBI36
NG_009497.1:g.685216A>G
NG_009497.2:g.685268A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11544A>G MANE Select ENSP00000305941.3:p.Gln3848=
ENST00000674083.1:c.11544A>G ENSP00000501296.1:p.Gln3848=
ENST00000307340.7:c.11544A>G ENSP00000305941.3:p.Gln3848=
NM_206933.2:c.11544A>G NP_996816.2:p.Gln3848=
NM_206933.3:c.11544A>G NP_996816.2:p.Gln3848=
NM_206933.4:c.11544A>G MANE Select NP_996816.3:p.Gln3848=
Search 100 bp 5'
Search 100 bp 3'