Canonical Allele Identifier: CA1396772

Gene: USH2A

Linked Data

• ClinVar Variation Id: 295447
• ClinVar RCV Id: RCV000292417 ; RCV000389034 ; RCV000606338 ; RCV001520242 ; RCV004537640
• dbSNP Id: rs114194722
• ExAC: 1:216592036 G / A
• gnomAD v2: 1-216592036-G-A
• gnomAD v3: 1-216418694-G-A
• gnomAD v4: 1-216418694-G-A
• MyVariant Identifiers: chr1:g.216592036G>A (hg19) ; chr1:g.216418694G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418694G>A , CM000663.2:g.216418694G>A	GRCh38
NC_000001.10:g.216592036G>A , CM000663.1:g.216592036G>A	GRCh37
NC_000001.9:g.214658659G>A	NCBI36
NG_009497.1:g.9703C>T
NG_009497.2:g.9755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.486-15C>T MANE Select	ENSP00000305941.3:n.486-15C>T
ENST00000674083.1:c.486-15C>T	ENSP00000501296.1:n.486-15C>T
ENST00000307340.7:c.486-15C>T	ENSP00000305941.3:n.486-15C>T
ENST00000366942.3:c.486-15C>T	ENSP00000355909.3:n.486-15C>T
NM_007123.5:c.486-15C>T	NP_009054.5:n.486-15C>T
NM_206933.2:c.486-15C>T	NP_996816.2:n.486-15C>T
NM_206933.3:c.486-15C>T	NP_996816.2:n.486-15C>T
NM_007123.6:c.486-15C>T	NP_009054.6:n.486-15C>T
NM_206933.4:c.486-15C>T MANE Select	NP_996816.3:n.486-15C>T