Canonical Allele Identifier: CA1012220308

Gene: USH2A

Linked Data

• ClinVar Variation Id: 2891793
• ClinVar RCV Id: RCV003725125
• dbSNP Id: rs2031517830
• gnomAD v3: 1-216070310-A-G
• gnomAD v4: 1-216070310-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216070310A>G , CM000663.2:g.216070310A>G	GRCh38
NC_000001.10:g.216243652A>G , CM000663.1:g.216243652A>G	GRCh37
NC_000001.9:g.214310275A>G	NCBI36
NG_009497.1:g.358087T>C
NG_009497.2:g.358139T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.5858-18T>C MANE Select	ENSP00000305941.3:n.5858-18T>C
ENST00000674083.1:c.5858-18T>C	ENSP00000501296.1:n.5858-18T>C
ENST00000307340.7:c.5858-18T>C	ENSP00000305941.3:n.5858-18T>C
NM_206933.2:c.5858-18T>C	NP_996816.2:n.5858-18T>C
NM_206933.3:c.5858-18T>C	NP_996816.2:n.5858-18T>C
NM_206933.4:c.5858-18T>C MANE Select	NP_996816.3:n.5858-18T>C