Canonical Allele Identifier: CA344850727
Gene: USH2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.215848732C>A (hg19) chr1:g.215675390C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215675390C>A , CM000663.2:g.215675390C>A GRCh38
NC_000001.10:g.215848732C>A , CM000663.1:g.215848732C>A GRCh37
NC_000001.9:g.213915355C>A NCBI36
NG_009497.1:g.753007G>T
NG_009497.2:g.753059G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.12521G>T MANE Select ENSP00000305941.3:p.Ser4174Ile
ENST00000674083.1:c.12521G>T ENSP00000501296.1:p.Ser4174Ile
ENST00000307340.7:c.12521G>T ENSP00000305941.3:p.Ser4174Ile
NM_206933.2:c.12521G>T NP_996816.2:p.Ser4174Ile
NM_206933.3:c.12521G>T NP_996816.2:p.Ser4174Ile
NM_206933.4:c.12521G>T MANE Select NP_996816.3:p.Ser4174Ile
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