Canonical Allele Identifier: CA344865576

Gene: USH2A

Linked Data

• dbSNP Id: rs1212098704
• gnomAD v2: 1-216420521-A-G
• gnomAD v4: 1-216247179-A-G
• MyVariant Identifiers: chr1:g.216420521A>G (hg19) ; chr1:g.216247179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216247179A>G , CM000663.2:g.216247179A>G	GRCh38
NC_000001.10:g.216420521A>G , CM000663.1:g.216420521A>G	GRCh37
NC_000001.9:g.214487144A>G	NCBI36
NG_009497.1:g.181218T>C
NG_009497.2:g.181270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.2215T>C MANE Select	ENSP00000305941.3:p.Phe739Leu
ENST00000674083.1:c.2215T>C	ENSP00000501296.1:p.Phe739Leu
ENST00000307340.7:c.2215T>C	ENSP00000305941.3:p.Phe739Leu
ENST00000366942.3:c.2215T>C	ENSP00000355909.3:p.Phe739Leu
NM_007123.5:c.2215T>C	NP_009054.5:p.Phe739Leu
NM_206933.2:c.2215T>C	NP_996816.2:p.Phe739Leu
NM_206933.3:c.2215T>C	NP_996816.2:p.Phe739Leu
NM_007123.6:c.2215T>C	NP_009054.6:p.Phe739Leu
NM_206933.4:c.2215T>C MANE Select	NP_996816.3:p.Phe739Leu