Canonical Allele Identifier: CA143275

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48385
• ClinVar RCV Id: RCV000041707 ; RCV000725418 ; RCV000986519 ; RCV001579153
• dbSNP Id: rs142381713
• ExAC: 1:215901511 G / A
• gnomAD v2: 1-215901511-G-A
• gnomAD v3: 1-215728169-G-A
• gnomAD v4: 1-215728169-G-A
• COSMIC: COSM3732855 ; COSM3732856
• MyVariant Identifiers: chr1:g.215901511G>A (hg19) ; chr1:g.215728169G>A (hg38)
• PubMed: PMID:17405132 ; PMID:20052763

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215728169G>A , CM000663.2:g.215728169G>A	GRCh38
NC_000001.10:g.215901511G>A , CM000663.1:g.215901511G>A	GRCh37
NC_000001.9:g.213968134G>A	NCBI36
NG_009497.1:g.700228C>T
NG_009497.2:g.700280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11927C>T MANE Select	ENSP00000305941.3:p.Thr3976Met
ENST00000674083.1:c.11927C>T	ENSP00000501296.1:p.Thr3976Met
ENST00000307340.7:c.11927C>T	ENSP00000305941.3:p.Thr3976Met
NM_206933.2:c.11927C>T	NP_996816.2:p.Thr3976Met
NM_206933.3:c.11927C>T	NP_996816.2:p.Thr3976Met
NM_206933.4:c.11927C>T MANE Select	NP_996816.3:p.Thr3976Met