Canonical Allele Identifier: CA1393513
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1415300
ClinVar RCV Id: RCV001933015
dbSNP Id: rs144168442
ExAC: 1:215853514 T / A
gnomAD v2: 1-215853514-T-A
gnomAD v3: 1-215680172-T-A
gnomAD v4: 1-215680172-T-A
MyVariant Identifiers: chr1:g.215853514T>A (hg19) chr1:g.215680172T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215680172T>A , CM000663.2:g.215680172T>A GRCh38
NC_000001.10:g.215853514T>A , CM000663.1:g.215853514T>A GRCh37
NC_000001.9:g.213920137T>A NCBI36
NG_009497.1:g.748225A>T
NG_009497.2:g.748277A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12271A>T MANE Select ENSP00000305941.3:p.Met4091Leu
ENST00000674083.1:c.12271A>T ENSP00000501296.1:p.Met4091Leu
ENST00000307340.7:c.12271A>T ENSP00000305941.3:p.Met4091Leu
NM_206933.2:c.12271A>T NP_996816.2:p.Met4091Leu
NM_206933.3:c.12271A>T NP_996816.2:p.Met4091Leu
NM_206933.4:c.12271A>T MANE Select NP_996816.3:p.Met4091Leu
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