Canonical Allele Identifier: CA1395431

Gene: USH2A USH2A-AS2

Linked Data

• ClinVar Variation Id: 512058
• ClinVar RCV Id: RCV000879372 ; RCV003451423 ; RCV003451424 ; RCV000613020
• dbSNP Id: rs370356689
• ExAC: 1:216251465 C / G
• gnomAD v2: 1-216251465-C-G
• gnomAD v3: 1-216078123-C-G
• gnomAD v4: 1-216078123-C-G
• MyVariant Identifiers: chr1:g.216251465C>G (hg19) ; chr1:g.216078123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216078123C>G , CM000663.2:g.216078123C>G	GRCh38
NC_000001.10:g.216251465C>G , CM000663.1:g.216251465C>G	GRCh37
NC_000001.9:g.214318088C>G	NCBI36
NG_009497.1:g.350274G>C
NG_009497.2:g.350326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.5538G>C (USH2A) MANE Select	ENSP00000305941.3:p.Leu1846=
ENST00000674083.1:c.5538G>C (USH2A)	ENSP00000501296.1:p.Leu1846=
ENST00000307340.7:c.5538G>C (USH2A)	ENSP00000305941.3:p.Leu1846=
NM_206933.2:c.5538G>C (USH2A)	NP_996816.2:p.Leu1846=
NR_125992.1:n.137-950C>G (USH2A-AS2)
NR_125993.1:n.136+5523C>G (USH2A-AS2)
NM_206933.3:c.5538G>C (USH2A)	NP_996816.2:p.Leu1846=
NM_206933.4:c.5538G>C (USH2A) MANE Select	NP_996816.3:p.Leu1846=