Canonical Allele Identifier: CA179556

Gene: USH2A

Linked Data

• ClinVar Variation Id: 166493
• ClinVar RCV Id: RCV000152609 ; RCV000669695 ; RCV002056017
• dbSNP Id: rs727503727
• ExAC: 1:216243646 T / C
• gnomAD v2: 1-216243646-T-C
• gnomAD v3: 1-216070304-T-C
• gnomAD v4: 1-216070304-T-C
• MyVariant Identifiers: chr1:g.216243646T>C (hg19) ; chr1:g.216070304T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070304T>C , CM000663.2:g.216070304T>C	GRCh38
NC_000001.10:g.216243646T>C , CM000663.1:g.216243646T>C	GRCh37
NC_000001.9:g.214310269T>C	NCBI36
NG_009497.1:g.358093A>G
NG_009497.2:g.358145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5858-12A>G MANE Select	ENSP00000305941.3:n.5858-12A>G
ENST00000674083.1:c.5858-12A>G	ENSP00000501296.1:n.5858-12A>G
ENST00000307340.7:c.5858-12A>G	ENSP00000305941.3:n.5858-12A>G
NM_206933.2:c.5858-12A>G	NP_996816.2:n.5858-12A>G
NM_206933.3:c.5858-12A>G	NP_996816.2:n.5858-12A>G
NM_206933.4:c.5858-12A>G MANE Select	NP_996816.3:n.5858-12A>G