Canonical Allele Identifier: CA344849825
Gene: USH2A HGNC NCBI

Linked Data

gnomAD v4: 1-215675219-T-G
MyVariant Identifiers: chr1:g.215848561T>G (hg19) chr1:g.215675219T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675219T>G , CM000663.2:g.215675219T>G GRCh38
NC_000001.10:g.215848561T>G , CM000663.1:g.215848561T>G GRCh37
NC_000001.9:g.213915184T>G NCBI36
NG_009497.1:g.753178A>C
NG_009497.2:g.753230A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12692A>C MANE Select ENSP00000305941.3:p.Gln4231Pro
ENST00000674083.1:c.12692A>C ENSP00000501296.1:p.Gln4231Pro
ENST00000307340.7:c.12692A>C ENSP00000305941.3:p.Gln4231Pro
NM_206933.2:c.12692A>C NP_996816.2:p.Gln4231Pro
NM_206933.3:c.12692A>C NP_996816.2:p.Gln4231Pro
NM_206933.4:c.12692A>C MANE Select NP_996816.3:p.Gln4231Pro
Search 100 bp 5'
Search 100 bp 3'