Canonical Allele Identifier: CA1393566
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs572390256
ExAC: 1:215901335 T / A
gnomAD v2: 1-215901335-T-A
gnomAD v3: 1-215727993-T-A
gnomAD v4: 1-215727993-T-A
MyVariant Identifiers: chr1:g.215901335T>A (hg19) chr1:g.215727993T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215727993T>A , CM000663.2:g.215727993T>A GRCh38
NC_000001.10:g.215901335T>A , CM000663.1:g.215901335T>A GRCh37
NC_000001.9:g.213967958T>A NCBI36
NG_009497.1:g.700404A>T
NG_009497.2:g.700456A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12066+37A>T MANE Select ENSP00000305941.3:n.12066+37A>T
ENST00000674083.1:c.12066+37A>T ENSP00000501296.1:n.12066+37A>T
ENST00000307340.7:c.12066+37A>T ENSP00000305941.3:n.12066+37A>T
NM_206933.2:c.12066+37A>T NP_996816.2:n.12066+37A>T
NM_206933.3:c.12066+37A>T NP_996816.2:n.12066+37A>T
NM_206933.4:c.12066+37A>T MANE Select NP_996816.3:n.12066+37A>T
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