Canonical Allele Identifier: CA37410113

Gene: USH2A

Linked Data

• ClinVar Variation Id: 557599
• ClinVar RCV Id: RCV001810480 ; RCV002531342 ; RCV002271562 ; RCV003453366 ; RCV003889962
• dbSNP Id: rs1040917329
• gnomAD v2: 1-215844430-A-G
• gnomAD v3: 1-215671088-A-G
• gnomAD v4: 1-215671088-A-G
• MyVariant Identifiers: chr1:g.215844430A>G (hg19) ; chr1:g.215671088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671088A>G , CM000663.2:g.215671088A>G	GRCh38
NC_000001.10:g.215844430A>G , CM000663.1:g.215844430A>G	GRCh37
NC_000001.9:g.213911053A>G	NCBI36
NG_009497.1:g.757309T>C
NG_009497.2:g.757361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14017T>C MANE Select	ENSP00000305941.3:p.Tyr4673His
ENST00000674083.1:c.14017T>C	ENSP00000501296.1:p.Tyr4673His
ENST00000307340.7:c.14017T>C	ENSP00000305941.3:p.Tyr4673His
NM_206933.2:c.14017T>C	NP_996816.2:p.Tyr4673His
NM_206933.3:c.14017T>C	NP_996816.2:p.Tyr4673His
NM_206933.4:c.14017T>C MANE Select	NP_996816.3:p.Tyr4673His