Canonical Allele Identifier: CA143231

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48358
• ClinVar RCV Id: RCV000041679 ; RCV000513386 ; RCV001197373
• dbSNP Id: rs115403785
• ExAC: 1:215953355 G / A
• gnomAD v2: 1-215953355-G-A
• gnomAD v3: 1-215780013-G-A
• gnomAD v4: 1-215780013-G-A
• MyVariant Identifiers: chr1:g.215953355G>A (hg19) ; chr1:g.215780013G>A (hg38)
• PubMed: PMID:18273898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780013G>A , CM000663.2:g.215780013G>A	GRCh38
NC_000001.10:g.215953355G>A , CM000663.1:g.215953355G>A	GRCh37
NC_000001.9:g.214019978G>A	NCBI36
NG_009497.1:g.648384C>T
NG_009497.2:g.648436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10769C>T MANE Select	ENSP00000305941.3:p.Pro3590Leu
ENST00000674083.1:c.10769C>T	ENSP00000501296.1:p.Pro3590Leu
ENST00000307340.7:c.10769C>T	ENSP00000305941.3:p.Pro3590Leu
NM_206933.2:c.10769C>T	NP_996816.2:p.Pro3590Leu
NM_206933.3:c.10769C>T	NP_996816.2:p.Pro3590Leu
NM_206933.4:c.10769C>T MANE Select	NP_996816.3:p.Pro3590Leu