Canonical Allele Identifier: CA143644

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48612
• ClinVar RCV Id: RCV000041938 ; RCV000669262 ; RCV001248550 ; RCV001276962 ; RCV003389453
• dbSNP Id: rs111033456
• ExAC: 1:216017823 A / T
• gnomAD v2: 1-216017823-A-T
• gnomAD v3: 1-215844481-A-T
• gnomAD v4: 1-215844481-A-T
• MyVariant Identifiers: chr1:g.216017823A>T (hg19) ; chr1:g.215844481A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215844481A>T , CM000663.2:g.215844481A>T	GRCh38
NC_000001.10:g.216017823A>T , CM000663.1:g.216017823A>T	GRCh37
NC_000001.9:g.214084446A>T	NCBI36
NG_009497.1:g.583916T>A
NG_009497.2:g.583968T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9071T>A MANE Select	ENSP00000305941.3:p.Leu3024His
ENST00000674083.1:c.9071T>A	ENSP00000501296.1:p.Leu3024His
ENST00000307340.7:c.9071T>A	ENSP00000305941.3:p.Leu3024His
NM_206933.2:c.9071T>A	NP_996816.2:p.Leu3024His
NM_206933.3:c.9071T>A	NP_996816.2:p.Leu3024His
NM_206933.4:c.9071T>A MANE Select	NP_996816.3:p.Leu3024His