Canonical Allele Identifier: CA1396243

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1139718
• ClinVar RCV Id: RCV001476547
• dbSNP Id: rs531507711
• ExAC: 1:216420369 G / A
• gnomAD v2: 1-216420369-G-A
• gnomAD v3: 1-216247027-G-A
• gnomAD v4: 1-216247027-G-A
• MyVariant Identifiers: chr1:g.216420369G>A (hg19) ; chr1:g.216247027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247027G>A , CM000663.2:g.216247027G>A	GRCh38
NC_000001.10:g.216420369G>A , CM000663.1:g.216420369G>A	GRCh37
NC_000001.9:g.214486992G>A	NCBI36
NG_009497.1:g.181370C>T
NG_009497.2:g.181422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2367C>T MANE Select	ENSP00000305941.3:p.Val789=
ENST00000674083.1:c.2367C>T	ENSP00000501296.1:p.Val789=
ENST00000307340.7:c.2367C>T	ENSP00000305941.3:p.Val789=
ENST00000366942.3:c.2367C>T	ENSP00000355909.3:p.Val789=
NM_007123.5:c.2367C>T	NP_009054.5:p.Val789=
NM_206933.2:c.2367C>T	NP_996816.2:p.Val789=
NM_206933.3:c.2367C>T	NP_996816.2:p.Val789=
NM_007123.6:c.2367C>T	NP_009054.6:p.Val789=
NM_206933.4:c.2367C>T MANE Select	NP_996816.3:p.Val789=