Canonical Allele Identifier: CA1394520

Gene: USH2A

Linked Data

• ClinVar Variation Id: 228417
• ClinVar RCV Id: RCV000213731 ; RCV000666615 ; RCV001273711 ; RCV001075409 ; RCV001091129
• dbSNP Id: rs766590491
• ExAC: 1:216040454 G / A
• gnomAD v2: 1-216040454-G-A
• gnomAD v4: 1-215867112-G-A
• COSMIC: COSM5005642 ; COSM5005643
• MyVariant Identifiers: chr1:g.216040454G>A (hg19) ; chr1:g.215867112G>A (hg38)
• PubMed: PMID:20507924 ; PMID:24944099 ; PMID:25472526

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215867112G>A , CM000663.2:g.215867112G>A	GRCh38
NC_000001.10:g.216040454G>A , CM000663.1:g.216040454G>A	GRCh37
NC_000001.9:g.214107077G>A	NCBI36
NG_009497.1:g.561285C>T
NG_009497.2:g.561337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8740C>T MANE Select	ENSP00000305941.3:p.Arg2914Ter
ENST00000674083.1:c.8740C>T	ENSP00000501296.1:p.Arg2914Ter
ENST00000307340.7:c.8740C>T	ENSP00000305941.3:p.Arg2914Ter
NM_206933.2:c.8740C>T	NP_996816.2:p.Arg2914Ter
NM_206933.3:c.8740C>T	NP_996816.2:p.Arg2914Ter
NM_206933.4:c.8740C>T MANE Select	NP_996816.3:p.Arg2914Ter