Canonical Allele Identifier: CA143306

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48410
• ClinVar RCV Id: RCV000041733 ; RCV001246661 ; RCV001272947
• dbSNP Id: rs137868043
• ExAC: 1:215848370 T / C
• gnomAD v2: 1-215848370-T-C
• gnomAD v3: 1-215675028-T-C
• gnomAD v4: 1-215675028-T-C
• MyVariant Identifiers: chr1:g.215848370T>C (hg19) ; chr1:g.215675028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675028T>C , CM000663.2:g.215675028T>C	GRCh38
NC_000001.10:g.215848370T>C , CM000663.1:g.215848370T>C	GRCh37
NC_000001.9:g.213914993T>C	NCBI36
NG_009497.1:g.753369A>G
NG_009497.2:g.753421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12883A>G MANE Select	ENSP00000305941.3:p.Ile4295Val
ENST00000674083.1:c.12883A>G	ENSP00000501296.1:p.Ile4295Val
ENST00000307340.7:c.12883A>G	ENSP00000305941.3:p.Ile4295Val
NM_206933.2:c.12883A>G	NP_996816.2:p.Ile4295Val
NM_206933.3:c.12883A>G	NP_996816.2:p.Ile4295Val
NM_206933.4:c.12883A>G MANE Select	NP_996816.3:p.Ile4295Val