Canonical Allele Identifier: CA1393518

Gene: USH2A

Linked Data

• ClinVar Variation Id: 229617
• ClinVar RCV Id: RCV000217686 ; RCV000756891 ; RCV001274936
• dbSNP Id: rs144783615
• ExAC: 1:215853544 G / A
• gnomAD v2: 1-215853544-G-A
• gnomAD v3: 1-215680202-G-A
• gnomAD v4: 1-215680202-G-A
• MyVariant Identifiers: chr1:g.215853544G>A (hg19) ; chr1:g.215680202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680202G>A , CM000663.2:g.215680202G>A	GRCh38
NC_000001.10:g.215853544G>A , CM000663.1:g.215853544G>A	GRCh37
NC_000001.9:g.213920167G>A	NCBI36
NG_009497.1:g.748195C>T
NG_009497.2:g.748247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12241C>T MANE Select	ENSP00000305941.3:p.Arg4081Trp
ENST00000674083.1:c.12241C>T	ENSP00000501296.1:p.Arg4081Trp
ENST00000307340.7:c.12241C>T	ENSP00000305941.3:p.Arg4081Trp
NM_206933.2:c.12241C>T	NP_996816.2:p.Arg4081Trp
NM_206933.3:c.12241C>T	NP_996816.2:p.Arg4081Trp
NM_206933.4:c.12241C>T MANE Select	NP_996816.3:p.Arg4081Trp