Canonical Allele Identifier: CA270149

Gene: USH2A

Linked Data

• ClinVar Variation Id: 143177
• ClinVar RCV Id: RCV000132708 ; RCV000490337 ; RCV001221094 ; RCV003462052 ; RCV003888573
• dbSNP Id: rs527236122
• ExAC: 1:215807865 G / C
• gnomAD v2: 1-215807865-G-C
• gnomAD v3: 1-215634523-G-C
• gnomAD v4: 1-215634523-G-C
• MyVariant Identifiers: chr1:g.215807865G>C (hg19) ; chr1:g.215634523G>C (hg38)
• PubMed: PMID:23967202

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215634523G>C , CM000663.2:g.215634523G>C	GRCh38
NC_000001.10:g.215807865G>C , CM000663.1:g.215807865G>C	GRCh37
NC_000001.9:g.213874488G>C	NCBI36
NG_009497.1:g.793874C>G
NG_009497.2:g.793926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.15233C>G MANE Select	ENSP00000305941.3:p.Pro5078Arg
ENST00000674083.1:c.15233C>G	ENSP00000501296.1:p.Pro5078Arg
ENST00000307340.7:c.15233C>G	ENSP00000305941.3:p.Pro5078Arg
NM_206933.2:c.15233C>G	NP_996816.2:p.Pro5078Arg
NM_206933.3:c.15233C>G	NP_996816.2:p.Pro5078Arg
NM_206933.4:c.15233C>G MANE Select	NP_996816.3:p.Pro5078Arg