Canonical Allele Identifier: CA16609670

Gene: USH2A

Linked Data

• ClinVar Variation Id: 501315
• ClinVar RCV Id: RCV000597898 ; RCV000670491 ; RCV001075129
• dbSNP Id: rs201730567
• gnomAD v2: 1-215940022-C-T
• gnomAD v3: 1-215766680-C-T
• gnomAD v4: 1-215766680-C-T
• MyVariant Identifiers: chr1:g.215940022C>T (hg19) ; chr1:g.215766680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215766680C>T , CM000663.2:g.215766680C>T	GRCh38
NC_000001.10:g.215940022C>T , CM000663.1:g.215940022C>T	GRCh37
NC_000001.9:g.214006645C>T	NCBI36
NG_009497.1:g.661717G>A
NG_009497.2:g.661769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11047+1G>A MANE Select	ENSP00000305941.3:n.11047+1G>A
ENST00000674083.1:c.11047+1G>A	ENSP00000501296.1:n.11047+1G>A
ENST00000307340.7:c.11047+1G>A	ENSP00000305941.3:n.11047+1G>A
NM_206933.2:c.11047+1G>A	NP_996816.2:n.11047+1G>A
NM_206933.3:c.11047+1G>A	NP_996816.2:n.11047+1G>A
NM_206933.4:c.11047+1G>A MANE Select	NP_996816.3:n.11047+1G>A