Canonical Allele Identifier: CA1394810

Gene: USH2A

Linked Data

• ClinVar Variation Id: 286304
• ClinVar RCV Id: RCV000487893 ; RCV001196427
• dbSNP Id: rs150060240
• ExAC: 1:216073470 T / C
• gnomAD v2: 1-216073470-T-C
• gnomAD v3: 1-215900128-T-C
• gnomAD v4: 1-215900128-T-C
• COSMIC: COSM3735077 ; COSM3735078
• MyVariant Identifiers: chr1:g.216073470T>C (hg19) ; chr1:g.215900128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215900128T>C , CM000663.2:g.215900128T>C	GRCh38
NC_000001.10:g.216073470T>C , CM000663.1:g.216073470T>C	GRCh37
NC_000001.9:g.214140093T>C	NCBI36
NG_009497.1:g.528269A>G
NG_009497.2:g.528321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7541A>G MANE Select	ENSP00000305941.3:p.Asn2514Ser
ENST00000674083.1:c.7541A>G	ENSP00000501296.1:p.Asn2514Ser
ENST00000307340.7:c.7541A>G	ENSP00000305941.3:p.Asn2514Ser
NM_206933.2:c.7541A>G	NP_996816.2:p.Asn2514Ser
NM_206933.3:c.7541A>G	NP_996816.2:p.Asn2514Ser
NM_206933.4:c.7541A>G MANE Select	NP_996816.3:p.Asn2514Ser