Canonical Allele Identifier: CA529002305
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1284209052
gnomAD v2: 1-215972237-T-C
gnomAD v4: 1-215798895-T-C
MyVariant Identifiers: chr1:g.215972237T>C (hg19) chr1:g.215798895T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215798895T>C , CM000663.2:g.215798895T>C GRCh38
NC_000001.10:g.215972237T>C , CM000663.1:g.215972237T>C GRCh37
NC_000001.9:g.214038860T>C NCBI36
NG_009497.1:g.629502A>G
NG_009497.2:g.629554A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307340.8:c.9958+12A>G MANE Select ENSP00000305941.3:n.9958+12A>G
ENST00000674083.1:c.9958+12A>G ENSP00000501296.1:n.9958+12A>G
ENST00000307340.7:c.9958+12A>G ENSP00000305941.3:n.9958+12A>G
NM_206933.2:c.9958+12A>G NP_996816.2:n.9958+12A>G
NM_206933.3:c.9958+12A>G NP_996816.2:n.9958+12A>G
NM_206933.4:c.9958+12A>G MANE Select NP_996816.3:n.9958+12A>G
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