Canonical Allele Identifier: CA344912616

Gene: USH2A

Linked Data

• ClinVar Variation Id: 438032
• ClinVar RCV Id: RCV000504774 ; RCV001300494 ; RCV001834624 ; RCV003464081
• dbSNP Id: rs1359713084
• gnomAD v2: 1-216498864-G-A
• gnomAD v3: 1-216325522-G-A
• gnomAD v4: 1-216325522-G-A
• MyVariant Identifiers: chr1:g.216498864G>A (hg19) ; chr1:g.216325522G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216325522G>A , CM000663.2:g.216325522G>A	GRCh38
NC_000001.10:g.216498864G>A , CM000663.1:g.216498864G>A	GRCh37
NC_000001.9:g.214565487G>A	NCBI36
NG_009497.1:g.102875C>T
NG_009497.2:g.102927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.926C>T MANE Select	ENSP00000305941.3:p.Pro309Leu
ENST00000674083.1:c.926C>T	ENSP00000501296.1:p.Pro309Leu
ENST00000307340.7:c.926C>T	ENSP00000305941.3:p.Pro309Leu
ENST00000366942.3:c.926C>T	ENSP00000355909.3:p.Pro309Leu
NM_007123.5:c.926C>T	NP_009054.5:p.Pro309Leu
NM_206933.2:c.926C>T	NP_996816.2:p.Pro309Leu
NM_206933.3:c.926C>T	NP_996816.2:p.Pro309Leu
NM_007123.6:c.926C>T	NP_009054.6:p.Pro309Leu
NM_206933.4:c.926C>T MANE Select	NP_996816.3:p.Pro309Leu