Canonical Allele Identifier: CA143572

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48569
• ClinVar RCV Id: RCV000041895 ; RCV001210033 ; RCV001274250
• dbSNP Id: rs111033412
• gnomAD v4: 1-215993104-G-A
• MyVariant Identifiers: chr1:g.216166446G>A (hg19) ; chr1:g.215993104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215993104G>A , CM000663.2:g.215993104G>A	GRCh38
NC_000001.10:g.216166446G>A , CM000663.1:g.216166446G>A	GRCh37
NC_000001.9:g.214233069G>A	NCBI36
NG_009497.1:g.435293C>T
NG_009497.2:g.435345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6721C>T MANE Select	ENSP00000305941.3:p.Pro2241Ser
ENST00000674083.1:c.6721C>T	ENSP00000501296.1:p.Pro2241Ser
ENST00000307340.7:c.6721C>T	ENSP00000305941.3:p.Pro2241Ser
NM_206933.2:c.6721C>T	NP_996816.2:p.Pro2241Ser
NM_206933.3:c.6721C>T	NP_996816.2:p.Pro2241Ser
NM_206933.4:c.6721C>T MANE Select	NP_996816.3:p.Pro2241Ser