Canonical Allele Identifier: CA262082

Gene: USH2A

Linked Data

• ClinVar Variation Id: 48408
• ClinVar RCV Id: RCV000041731 ; RCV000670430 ; RCV000819445 ; RCV001074436 ; RCV003450770 ; RCV003450771
• dbSNP Id: rs397517983
• gnomAD v4: 1-215675043-G-A
• MyVariant Identifiers: chr1:g.215848385G>A (hg19) ; chr1:g.215675043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215675043G>A , CM000663.2:g.215675043G>A	GRCh38
NC_000001.10:g.215848385G>A , CM000663.1:g.215848385G>A	GRCh37
NC_000001.9:g.213915008G>A	NCBI36
NG_009497.1:g.753354C>T
NG_009497.2:g.753406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12868C>T MANE Select	ENSP00000305941.3:p.Gln4290Ter
ENST00000674083.1:c.12868C>T	ENSP00000501296.1:p.Gln4290Ter
ENST00000307340.7:c.12868C>T	ENSP00000305941.3:p.Gln4290Ter
NM_206933.2:c.12868C>T	NP_996816.2:p.Gln4290Ter
NM_206933.3:c.12868C>T	NP_996816.2:p.Gln4290Ter
NM_206933.4:c.12868C>T MANE Select	NP_996816.3:p.Gln4290Ter