Canonical Allele Identifier: CA344865610

Gene: USH2A

Linked Data

• dbSNP Id: rs758063197
• gnomAD v3: 1-216247188-G-T
• gnomAD v4: 1-216247188-G-T
• MyVariant Identifiers: chr1:g.216420530G>T (hg19) ; chr1:g.216247188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247188G>T , CM000663.2:g.216247188G>T	GRCh38
NC_000001.10:g.216420530G>T , CM000663.1:g.216420530G>T	GRCh37
NC_000001.9:g.214487153G>T	NCBI36
NG_009497.1:g.181209C>A
NG_009497.2:g.181261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2206C>A MANE Select	ENSP00000305941.3:p.Leu736Ile
ENST00000674083.1:c.2206C>A	ENSP00000501296.1:p.Leu736Ile
ENST00000307340.7:c.2206C>A	ENSP00000305941.3:p.Leu736Ile
ENST00000366942.3:c.2206C>A	ENSP00000355909.3:p.Leu736Ile
NM_007123.5:c.2206C>A	NP_009054.5:p.Leu736Ile
NM_206933.2:c.2206C>A	NP_996816.2:p.Leu736Ile
NM_206933.3:c.2206C>A	NP_996816.2:p.Leu736Ile
NM_007123.6:c.2206C>A	NP_009054.6:p.Leu736Ile
NM_206933.4:c.2206C>A MANE Select	NP_996816.3:p.Leu736Ile