Canonical Allele Identifier: CA344827088
Gene: USH2A HGNC NCBI

Linked Data

dbSNP Id: rs367631313
gnomAD v2: 1-215901442-C-A
gnomAD v3: 1-215728100-C-A
gnomAD v4: 1-215728100-C-A
MyVariant Identifiers: chr1:g.215901442C>A (hg19) chr1:g.215728100C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.215728100C>A , CM000663.2:g.215728100C>A GRCh38
NC_000001.10:g.215901442C>A , CM000663.1:g.215901442C>A GRCh37
NC_000001.9:g.213968065C>A NCBI36
NG_009497.1:g.700297G>T
NG_009497.2:g.700349G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.11996G>T MANE Select ENSP00000305941.3:p.Arg3999Leu
ENST00000674083.1:c.11996G>T ENSP00000501296.1:p.Arg3999Leu
ENST00000307340.7:c.11996G>T ENSP00000305941.3:p.Arg3999Leu
NM_206933.2:c.11996G>T NP_996816.2:p.Arg3999Leu
NM_206933.3:c.11996G>T NP_996816.2:p.Arg3999Leu
NM_206933.4:c.11996G>T MANE Select NP_996816.3:p.Arg3999Leu
Search 100 bp 5'
Search 100 bp 3'