Canonical Allele Identifier: CA344851063
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1241379646
gnomAD v2: 1-215848865-G-C
gnomAD v4: 1-215675523-G-C
MyVariant Identifiers: chr1:g.215848865G>C (hg19) chr1:g.215675523G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675523G>C , CM000663.2:g.215675523G>C GRCh38
NC_000001.10:g.215848865G>C , CM000663.1:g.215848865G>C GRCh37
NC_000001.9:g.213915488G>C NCBI36
NG_009497.1:g.752874C>G
NG_009497.2:g.752926C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12388C>G MANE Select ENSP00000305941.3:p.Leu4130Val
ENST00000674083.1:c.12388C>G ENSP00000501296.1:p.Leu4130Val
ENST00000307340.7:c.12388C>G ENSP00000305941.3:p.Leu4130Val
NM_206933.2:c.12388C>G NP_996816.2:p.Leu4130Val
NM_206933.3:c.12388C>G NP_996816.2:p.Leu4130Val
NM_206933.4:c.12388C>G MANE Select NP_996816.3:p.Leu4130Val
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