Canonical Allele Identifier: CA344825088
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1662880695
gnomAD v4: 1-215817121-G-C
MyVariant Identifiers: chr1:g.215990463G>C (hg19) chr1:g.215817121G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215817121G>C , CM000663.2:g.215817121G>C GRCh38
NC_000001.10:g.215990463G>C , CM000663.1:g.215990463G>C GRCh37
NC_000001.9:g.214057086G>C NCBI36
NG_009497.1:g.611276C>G
NG_009497.2:g.611328C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.9446C>G MANE Select ENSP00000305941.3:p.Thr3149Arg
ENST00000674083.1:c.9446C>G ENSP00000501296.1:p.Thr3149Arg
ENST00000307340.7:c.9446C>G ENSP00000305941.3:p.Thr3149Arg
NM_206933.2:c.9446C>G NP_996816.2:p.Thr3149Arg
NM_206933.3:c.9446C>G NP_996816.2:p.Thr3149Arg
NM_206933.4:c.9446C>G MANE Select NP_996816.3:p.Thr3149Arg
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