Canonical Allele Identifier: CA1395659

Gene: USH2A

Linked Data

• ClinVar Variation Id: 504513
• ClinVar RCV Id: RCV000605510 ; RCV000669125 ; RCV001002689 ; RCV001208453 ; RCV003451354
• dbSNP Id: rs199679165
• ExAC: 1:216270538 G / A
• gnomAD v2: 1-216270538-G-A
• gnomAD v3: 1-216097196-G-A
• gnomAD v4: 1-216097196-G-A
• COSMIC: COSM4495951 ; COSM4495952
• MyVariant Identifiers: chr1:g.216270538G>A (hg19) ; chr1:g.216097196G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216097196G>A , CM000663.2:g.216097196G>A	GRCh38
NC_000001.10:g.216270538G>A , CM000663.1:g.216270538G>A	GRCh37
NC_000001.9:g.214337161G>A	NCBI36
NG_009497.1:g.331201C>T
NG_009497.2:g.331253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4645C>T MANE Select	ENSP00000305941.3:p.Arg1549Ter
ENST00000674083.1:c.4645C>T	ENSP00000501296.1:p.Arg1549Ter
ENST00000307340.7:c.4645C>T	ENSP00000305941.3:p.Arg1549Ter
NM_206933.2:c.4645C>T	NP_996816.2:p.Arg1549Ter
NM_206933.3:c.4645C>T	NP_996816.2:p.Arg1549Ter
NM_206933.4:c.4645C>T MANE Select	NP_996816.3:p.Arg1549Ter