Canonical Allele Identifier: CA143540

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48550
• ClinVar RCV Id: RCV000041876 ; RCV000665501 ; RCV001509571 ; RCV002513603
• dbSNP Id: rs370597096
• ExAC: 1:216243449 G / A
• gnomAD v2: 1-216243449-G-A
• gnomAD v3: 1-216070107-G-A
• gnomAD v4: 1-216070107-G-A
• MyVariant Identifiers: chr1:g.216243449G>A (hg19) ; chr1:g.216070107G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070107G>A , CM000663.2:g.216070107G>A	GRCh38
NC_000001.10:g.216243449G>A , CM000663.1:g.216243449G>A	GRCh37
NC_000001.9:g.214310072G>A	NCBI36
NG_009497.1:g.358290C>T
NG_009497.2:g.358342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6043C>T MANE Select	ENSP00000305941.3:p.Leu2015Phe
ENST00000674083.1:c.6043C>T	ENSP00000501296.1:p.Leu2015Phe
ENST00000307340.7:c.6043C>T	ENSP00000305941.3:p.Leu2015Phe
NM_206933.2:c.6043C>T	NP_996816.2:p.Leu2015Phe
NM_206933.3:c.6043C>T	NP_996816.2:p.Leu2015Phe
NM_206933.4:c.6043C>T MANE Select	NP_996816.3:p.Leu2015Phe