Canonical Allele Identifier: CA1393190

Gene: USH2A

Linked Data

• ClinVar Variation Id: 999829
• ClinVar RCV Id: RCV001295873 ; RCV001830130 ; RCV003323848 ; RCV003449846
• dbSNP Id: rs376077079
• ExAC: 1:215844615 G / A
• gnomAD v2: 1-215844615-G-A
• gnomAD v3: 1-215671273-G-A
• gnomAD v4: 1-215671273-G-A
• MyVariant Identifiers: chr1:g.215844615G>A (hg19) ; chr1:g.215671273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215671273G>A , CM000663.2:g.215671273G>A	GRCh38
NC_000001.10:g.215844615G>A , CM000663.1:g.215844615G>A	GRCh37
NC_000001.9:g.213911238G>A	NCBI36
NG_009497.1:g.757124C>T
NG_009497.2:g.757176C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13832C>T MANE Select	ENSP00000305941.3:p.Ala4611Val
ENST00000674083.1:c.13832C>T	ENSP00000501296.1:p.Ala4611Val
ENST00000307340.7:c.13832C>T	ENSP00000305941.3:p.Ala4611Val
NM_206933.2:c.13832C>T	NP_996816.2:p.Ala4611Val
NM_206933.3:c.13832C>T	NP_996816.2:p.Ala4611Val
NM_206933.4:c.13832C>T MANE Select	NP_996816.3:p.Ala4611Val