Canonical Allele Identifier: CA143585

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48576
• ClinVar RCV Id: RCV000041902 ; RCV000490376 ; RCV000671627 ; RCV000924303
• dbSNP Id: rs200038092
• ExAC: 1:216138711 A / C
• gnomAD v2: 1-216138711-A-C
• gnomAD v3: 1-215965369-A-C
• gnomAD v4: 1-215965369-A-C
• MyVariant Identifiers: chr1:g.216138711A>C (hg19) ; chr1:g.215965369A>C (hg38)
• PubMed: PMID:23591405 ; PMID:23967202 ; PMID:24938718 ; PMID:25356976

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215965369A>C , CM000663.2:g.215965369A>C	GRCh38
NC_000001.10:g.216138711A>C , CM000663.1:g.216138711A>C	GRCh37
NC_000001.9:g.214205334A>C	NCBI36
NG_009497.1:g.463028T>G
NG_009497.2:g.463080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7068T>G MANE Select	ENSP00000305941.3:p.Asn2356Lys
ENST00000674083.1:c.7068T>G	ENSP00000501296.1:p.Asn2356Lys
ENST00000307340.7:c.7068T>G	ENSP00000305941.3:p.Asn2356Lys
NM_206933.2:c.7068T>G	NP_996816.2:p.Asn2356Lys
NM_206933.3:c.7068T>G	NP_996816.2:p.Asn2356Lys
NM_206933.4:c.7068T>G MANE Select	NP_996816.3:p.Asn2356Lys