Canonical Allele Identifier: CA262128

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48621
• ClinVar RCV Id: RCV000041947 ; RCV001588862 ; RCV001216340
• dbSNP Id: rs397518046
• gnomAD v2: 1-216011400-G-A
• gnomAD v3: 1-215838058-G-A
• gnomAD v4: 1-215838058-G-A
• MyVariant Identifiers: chr1:g.216011400G>A (hg19) ; chr1:g.215838058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215838058G>A , CM000663.2:g.215838058G>A	GRCh38
NC_000001.10:g.216011400G>A , CM000663.1:g.216011400G>A	GRCh37
NC_000001.9:g.214078023G>A	NCBI36
NG_009497.1:g.590339C>T
NG_009497.2:g.590391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9304C>T MANE Select	ENSP00000305941.3:p.Gln3102Ter
ENST00000674083.1:c.9304C>T	ENSP00000501296.1:p.Gln3102Ter
ENST00000307340.7:c.9304C>T	ENSP00000305941.3:p.Gln3102Ter
NM_206933.2:c.9304C>T	NP_996816.2:p.Gln3102Ter
NM_206933.3:c.9304C>T	NP_996816.2:p.Gln3102Ter
NM_206933.4:c.9304C>T MANE Select	NP_996816.3:p.Gln3102Ter