Canonical Allele Identifier: CA344845120
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs1408818437
gnomAD v2: 1-215847790-G-T
gnomAD v3: 1-215674448-G-T
gnomAD v4: 1-215674448-G-T
MyVariant Identifiers: chr1:g.215847790G>T (hg19) chr1:g.215674448G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215674448G>T , CM000663.2:g.215674448G>T GRCh38
NC_000001.10:g.215847790G>T , CM000663.1:g.215847790G>T GRCh37
NC_000001.9:g.213914413G>T NCBI36
NG_009497.1:g.753949C>A
NG_009497.2:g.754001C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.13463C>A MANE Select ENSP00000305941.3:p.Thr4488Lys
ENST00000674083.1:c.13463C>A ENSP00000501296.1:p.Thr4488Lys
ENST00000307340.7:c.13463C>A ENSP00000305941.3:p.Thr4488Lys
NM_206933.2:c.13463C>A NP_996816.2:p.Thr4488Lys
NM_206933.3:c.13463C>A NP_996816.2:p.Thr4488Lys
NM_206933.4:c.13463C>A MANE Select NP_996816.3:p.Thr4488Lys
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