Canonical Allele Identifier: CA344912591

Gene: USH2A

Linked Data

• dbSNP Id: rs1482649913
• gnomAD v2: 1-216498849-A-C
• gnomAD v4: 1-216325507-A-C
• MyVariant Identifiers: chr1:g.216498849A>C (hg19) ; chr1:g.216325507A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325507A>C , CM000663.2:g.216325507A>C	GRCh38
NC_000001.10:g.216498849A>C , CM000663.1:g.216498849A>C	GRCh37
NC_000001.9:g.214565472A>C	NCBI36
NG_009497.1:g.102890T>G
NG_009497.2:g.102942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.941T>G MANE Select	ENSP00000305941.3:p.Leu314Trp
ENST00000674083.1:c.941T>G	ENSP00000501296.1:p.Leu314Trp
ENST00000307340.7:c.941T>G	ENSP00000305941.3:p.Leu314Trp
ENST00000366942.3:c.941T>G	ENSP00000355909.3:p.Leu314Trp
NM_007123.5:c.941T>G	NP_009054.5:p.Leu314Trp
NM_206933.2:c.941T>G	NP_996816.2:p.Leu314Trp
NM_206933.3:c.941T>G	NP_996816.2:p.Leu314Trp
NM_007123.6:c.941T>G	NP_009054.6:p.Leu314Trp
NM_206933.4:c.941T>G MANE Select	NP_996816.3:p.Leu314Trp