Canonical Allele Identifier: CA245826

Gene: USH2A

Linked Data

• ClinVar Variation Id: 197579
• ClinVar RCV Id: RCV000178642 ; RCV001835708 ; RCV003389461
• dbSNP Id: rs147267500
• ExAC: 1:216011418 C / T
• gnomAD v2: 1-216011418-C-T
• gnomAD v3: 1-215838076-C-T
• gnomAD v4: 1-215838076-C-T
• MyVariant Identifiers: chr1:g.216011418C>T (hg19) ; chr1:g.215838076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215838076C>T , CM000663.2:g.215838076C>T	GRCh38
NC_000001.10:g.216011418C>T , CM000663.1:g.216011418C>T	GRCh37
NC_000001.9:g.214078041C>T	NCBI36
NG_009497.1:g.590321G>A
NG_009497.2:g.590373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9286G>A MANE Select	ENSP00000305941.3:p.Val3096Met
ENST00000674083.1:c.9286G>A	ENSP00000501296.1:p.Val3096Met
ENST00000307340.7:c.9286G>A	ENSP00000305941.3:p.Val3096Met
NM_206933.2:c.9286G>A	NP_996816.2:p.Val3096Met
NM_206933.3:c.9286G>A	NP_996816.2:p.Val3096Met
NM_206933.4:c.9286G>A MANE Select	NP_996816.3:p.Val3096Met