Canonical Allele Identifier: CA1393019

Gene: USH2A

Linked Data

• ClinVar Variation Id: 504509
• ClinVar RCV Id: RCV000613330 ; RCV001040115 ; RCV000986515 ; RCV001376397 ; RCV002506444 ; RCV003155245
• dbSNP Id: rs143344549
• ExAC: 1:215821999 G / A
• gnomAD v2: 1-215821999-G-A
• gnomAD v3: 1-215648657-G-A
• gnomAD v4: 1-215648657-G-A
• MyVariant Identifiers: chr1:g.215821999G>A (hg19) ; chr1:g.215648657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215648657G>A , CM000663.2:g.215648657G>A	GRCh38
NC_000001.10:g.215821999G>A , CM000663.1:g.215821999G>A	GRCh37
NC_000001.9:g.213888622G>A	NCBI36
NG_009497.1:g.779740C>T
NG_009497.2:g.779792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.14453C>T MANE Select	ENSP00000305941.3:p.Pro4818Leu
ENST00000674083.1:c.14453C>T	ENSP00000501296.1:p.Pro4818Leu
ENST00000307340.7:c.14453C>T	ENSP00000305941.3:p.Pro4818Leu
NM_206933.2:c.14453C>T	NP_996816.2:p.Pro4818Leu
NM_206933.3:c.14453C>T	NP_996816.2:p.Pro4818Leu
NM_206933.4:c.14453C>T MANE Select	NP_996816.3:p.Pro4818Leu