Canonical Allele Identifier: CA344902495

Gene: USH2A

Linked Data

• dbSNP Id: rs2102783899
• gnomAD v4: 1-216418593-A-G
• MyVariant Identifiers: chr1:g.216591935A>G (hg19) ; chr1:g.216418593A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216418593A>G , CM000663.2:g.216418593A>G	GRCh38
NC_000001.10:g.216591935A>G , CM000663.1:g.216591935A>G	GRCh37
NC_000001.9:g.214658558A>G	NCBI36
NG_009497.1:g.9804T>C
NG_009497.2:g.9856T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.572T>C MANE Select	ENSP00000305941.3:p.Val191Ala
ENST00000674083.1:c.572T>C	ENSP00000501296.1:p.Val191Ala
ENST00000307340.7:c.572T>C	ENSP00000305941.3:p.Val191Ala
ENST00000366942.3:c.572T>C	ENSP00000355909.3:p.Val191Ala
NM_007123.5:c.572T>C	NP_009054.5:p.Val191Ala
NM_206933.2:c.572T>C	NP_996816.2:p.Val191Ala
NM_206933.3:c.572T>C	NP_996816.2:p.Val191Ala
NM_007123.6:c.572T>C	NP_009054.6:p.Val191Ala
NM_206933.4:c.572T>C MANE Select	NP_996816.3:p.Val191Ala