Canonical Allele Identifier: CA1396771

Gene: USH2A

Linked Data

• ClinVar Variation Id: 372543
• ClinVar RCV Id: RCV000414183 ; RCV000678652 ; RCV000673542 ; RCV001075754 ; RCV001828379
• dbSNP Id: rs374536346
• ExAC: 1:216592035 C / T
• gnomAD v2: 1-216592035-C-T
• gnomAD v3: 1-216418693-C-T
• gnomAD v4: 1-216418693-C-T
• MyVariant Identifiers: chr1:g.216592035C>T (hg19) ; chr1:g.216418693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418693C>T , CM000663.2:g.216418693C>T	GRCh38
NC_000001.10:g.216592035C>T , CM000663.1:g.216592035C>T	GRCh37
NC_000001.9:g.214658658C>T	NCBI36
NG_009497.1:g.9704G>A
NG_009497.2:g.9756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-14G>A MANE Select	ENSP00000305941.3:n.486-14G>A
ENST00000674083.1:c.486-14G>A	ENSP00000501296.1:n.486-14G>A
ENST00000307340.7:c.486-14G>A	ENSP00000305941.3:n.486-14G>A
ENST00000366942.3:c.486-14G>A	ENSP00000355909.3:n.486-14G>A
NM_007123.5:c.486-14G>A	NP_009054.5:n.486-14G>A
NM_206933.2:c.486-14G>A	NP_996816.2:n.486-14G>A
NM_206933.3:c.486-14G>A	NP_996816.2:n.486-14G>A
NM_007123.6:c.486-14G>A	NP_009054.6:n.486-14G>A
NM_206933.4:c.486-14G>A MANE Select	NP_996816.3:n.486-14G>A