Canonical Allele Identifier: CA183997

Gene: USH2A

Linked Data

• ClinVar Variation Id: 179225
• ClinVar RCV Id: RCV000156012 ; RCV000673498 ; RCV001831971 ; RCV001731487 ; RCV003462061
• dbSNP Id: rs727504721
• ExAC: 1:216500960 C / T
• gnomAD v2: 1-216500960-C-T
• gnomAD v3: 1-216327618-C-T
• gnomAD v4: 1-216327618-C-T
• MyVariant Identifiers: chr1:g.216500960C>T (hg19) ; chr1:g.216327618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216327618C>T , CM000663.2:g.216327618C>T	GRCh38
NC_000001.10:g.216500960C>T , CM000663.1:g.216500960C>T	GRCh37
NC_000001.9:g.214567583C>T	NCBI36
NG_009497.1:g.100779G>A
NG_009497.2:g.100831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.821G>A MANE Select	ENSP00000305941.3:p.Arg274Gln
ENST00000674083.1:c.821G>A	ENSP00000501296.1:p.Arg274Gln
ENST00000307340.7:c.821G>A	ENSP00000305941.3:p.Arg274Gln
ENST00000366942.3:c.821G>A	ENSP00000355909.3:p.Arg274Gln
NM_007123.5:c.821G>A	NP_009054.5:p.Arg274Gln
NM_206933.2:c.821G>A	NP_996816.2:p.Arg274Gln
NM_206933.3:c.821G>A	NP_996816.2:p.Arg274Gln
NM_007123.6:c.821G>A	NP_009054.6:p.Arg274Gln
NM_206933.4:c.821G>A MANE Select	NP_996816.3:p.Arg274Gln