Canonical Allele Identifier: CA344827861
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1964689
ClinVar RCV Id: RCV002721549
dbSNP Id: rs149289393
gnomAD v2: 1-215813975-C-G
gnomAD v3: 1-215640633-C-G
gnomAD v4: 1-215640633-C-G
MyVariant Identifiers: chr1:g.215813975C>G (hg19) chr1:g.215640633C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215640633C>G , CM000663.2:g.215640633C>G GRCh38
NC_000001.10:g.215813975C>G , CM000663.1:g.215813975C>G GRCh37
NC_000001.9:g.213880598C>G NCBI36
NG_009497.1:g.787764G>C
NG_009497.2:g.787816G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.14893G>C MANE Select ENSP00000305941.3:p.Val4965Leu
ENST00000674083.1:c.14893G>C ENSP00000501296.1:p.Val4965Leu
ENST00000307340.7:c.14893G>C ENSP00000305941.3:p.Val4965Leu
NM_206933.2:c.14893G>C NP_996816.2:p.Val4965Leu
NM_206933.3:c.14893G>C NP_996816.2:p.Val4965Leu
NM_206933.4:c.14893G>C MANE Select NP_996816.3:p.Val4965Leu
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