Canonical Allele Identifier: CA10609873

Gene: USH2A

Linked Data

• ClinVar Variation Id: 295445
• ClinVar RCV Id: RCV000261571 ; RCV000358742 ; RCV001443214
• dbSNP Id: rs765189933
• gnomAD v2: 1-216498945-T-C
• gnomAD v4: 1-216325603-T-C
• MyVariant Identifiers: chr1:g.216498945T>C (hg19) ; chr1:g.216325603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325603T>C , CM000663.2:g.216325603T>C	GRCh38
NC_000001.10:g.216498945T>C , CM000663.1:g.216498945T>C	GRCh37
NC_000001.9:g.214565568T>C	NCBI36
NG_009497.1:g.102794A>G
NG_009497.2:g.102846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.849-4A>G MANE Select	ENSP00000305941.3:n.849-4A>G
ENST00000674083.1:c.849-4A>G	ENSP00000501296.1:n.849-4A>G
ENST00000307340.7:c.849-4A>G	ENSP00000305941.3:n.849-4A>G
ENST00000366942.3:c.849-4A>G	ENSP00000355909.3:n.849-4A>G
NM_007123.5:c.849-4A>G	NP_009054.5:n.849-4A>G
NM_206933.2:c.849-4A>G	NP_996816.2:n.849-4A>G
NM_206933.3:c.849-4A>G	NP_996816.2:n.849-4A>G
NM_007123.6:c.849-4A>G	NP_009054.6:n.849-4A>G
NM_206933.4:c.849-4A>G MANE Select	NP_996816.3:n.849-4A>G