Canonical Allele Identifier: CA143646

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48614
• ClinVar RCV Id: RCV000041940 ; RCV000416029 ; RCV001810414
• dbSNP Id: rs146445078
• ExAC: 1:216017691 A / G
• gnomAD v2: 1-216017691-A-G
• gnomAD v3: 1-215844349-A-G
• gnomAD v4: 1-215844349-A-G
• MyVariant Identifiers: chr1:g.216017691A>G (hg19) ; chr1:g.215844349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215844349A>G , CM000663.2:g.215844349A>G	GRCh38
NC_000001.10:g.216017691A>G , CM000663.1:g.216017691A>G	GRCh37
NC_000001.9:g.214084314A>G	NCBI36
NG_009497.1:g.584048T>C
NG_009497.2:g.584100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9203T>C MANE Select	ENSP00000305941.3:p.Val3068Ala
ENST00000674083.1:c.9203T>C	ENSP00000501296.1:p.Val3068Ala
ENST00000307340.7:c.9203T>C	ENSP00000305941.3:p.Val3068Ala
NM_206933.2:c.9203T>C	NP_996816.2:p.Val3068Ala
NM_206933.3:c.9203T>C	NP_996816.2:p.Val3068Ala
NM_206933.4:c.9203T>C MANE Select	NP_996816.3:p.Val3068Ala