Canonical Allele Identifier: CA143284

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48396
• ClinVar RCV Id: RCV000041718 ; RCV001274935 ; RCV001241616 ; RCV001270357 ; RCV001376289 ; RCV002496660
• dbSNP Id: rs142095945
• ExAC: 1:215848921 G / A
• gnomAD v2: 1-215848921-G-A
• gnomAD v3: 1-215675579-G-A
• gnomAD v4: 1-215675579-G-A
• MyVariant Identifiers: chr1:g.215848921G>A (hg19) ; chr1:g.215675579G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675579G>A , CM000663.2:g.215675579G>A	GRCh38
NC_000001.10:g.215848921G>A , CM000663.1:g.215848921G>A	GRCh37
NC_000001.9:g.213915544G>A	NCBI36
NG_009497.1:g.752818C>T
NG_009497.2:g.752870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12332C>T MANE Select	ENSP00000305941.3:p.Ser4111Phe
ENST00000674083.1:c.12332C>T	ENSP00000501296.1:p.Ser4111Phe
ENST00000307340.7:c.12332C>T	ENSP00000305941.3:p.Ser4111Phe
NM_206933.2:c.12332C>T	NP_996816.2:p.Ser4111Phe
NM_206933.3:c.12332C>T	NP_996816.2:p.Ser4111Phe
NM_206933.4:c.12332C>T MANE Select	NP_996816.3:p.Ser4111Phe