Canonical Allele Identifier: CA344834674

Gene: USH2A

Linked Data

• ClinVar Variation Id: 1390560
• ClinVar RCV Id: RCV001910773 ; RCV003471004
• dbSNP Id: rs2102727387
• gnomAD v4: 1-215743210-G-A
• MyVariant Identifiers: chr1:g.215916552G>A (hg19) ; chr1:g.215743210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743210G>A , CM000663.2:g.215743210G>A	GRCh38
NC_000001.10:g.215916552G>A , CM000663.1:g.215916552G>A	GRCh37
NC_000001.9:g.213983175G>A	NCBI36
NG_009497.1:g.685187C>T
NG_009497.2:g.685239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11515C>T MANE Select	ENSP00000305941.3:p.Gln3839Ter
ENST00000674083.1:c.11515C>T	ENSP00000501296.1:p.Gln3839Ter
ENST00000307340.7:c.11515C>T	ENSP00000305941.3:p.Gln3839Ter
NM_206933.2:c.11515C>T	NP_996816.2:p.Gln3839Ter
NM_206933.3:c.11515C>T	NP_996816.2:p.Gln3839Ter
NM_206933.4:c.11515C>T MANE Select	NP_996816.3:p.Gln3839Ter