Canonical Allele Identifier: CA16617057

Gene: USH2A

Linked Data

• ClinVar Variation Id: 421305
• ClinVar RCV Id: RCV000486199 ; RCV003446078 ; RCV003464018
• dbSNP Id: rs1064795047
• gnomAD v2: 1-216062398-T-C
• gnomAD v4: 1-215889056-T-C
• MyVariant Identifiers: chr1:g.216062398T>C (hg19) ; chr1:g.215889056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215889056T>C , CM000663.2:g.215889056T>C	GRCh38
NC_000001.10:g.216062398T>C , CM000663.1:g.216062398T>C	GRCh37
NC_000001.9:g.214129021T>C	NCBI36
NG_009497.1:g.539341A>G
NG_009497.2:g.539393A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.7595-2A>G MANE Select	ENSP00000305941.3:n.7595-2A>G
ENST00000674083.1:c.7595-2A>G	ENSP00000501296.1:n.7595-2A>G
ENST00000307340.7:c.7595-2A>G	ENSP00000305941.3:n.7595-2A>G
NM_206933.2:c.7595-2A>G	NP_996816.2:n.7595-2A>G
NM_206933.3:c.7595-2A>G	NP_996816.2:n.7595-2A>G
NM_206933.4:c.7595-2A>G MANE Select	NP_996816.3:n.7595-2A>G