Canonical Allele Identifier: CA1393195

Gene: USH2A

Linked Data

• ClinVar Variation Id: 735790
• ClinVar RCV Id: RCV000911376 ; RCV001272940
• dbSNP Id: rs371583628
• ExAC: 1:215844640 A / G
• gnomAD v2: 1-215844640-A-G
• gnomAD v3: 1-215671298-A-G
• gnomAD v4: 1-215671298-A-G
• MyVariant Identifiers: chr1:g.215844640A>G (hg19) ; chr1:g.215671298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671298A>G , CM000663.2:g.215671298A>G	GRCh38
NC_000001.10:g.215844640A>G , CM000663.1:g.215844640A>G	GRCh37
NC_000001.9:g.213911263A>G	NCBI36
NG_009497.1:g.757099T>C
NG_009497.2:g.757151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13812-5T>C MANE Select	ENSP00000305941.3:n.13812-5T>C
ENST00000674083.1:c.13812-5T>C	ENSP00000501296.1:n.13812-5T>C
ENST00000307340.7:c.13812-5T>C	ENSP00000305941.3:n.13812-5T>C
NM_206933.2:c.13812-5T>C	NP_996816.2:n.13812-5T>C
NM_206933.3:c.13812-5T>C	NP_996816.2:n.13812-5T>C
NM_206933.4:c.13812-5T>C MANE Select	NP_996816.3:n.13812-5T>C