Canonical Allele Identifier: CA344845455

Gene: USH2A

Linked Data

• gnomAD v4: 1-215674527-T-A
• MyVariant Identifiers: chr1:g.215847869T>A (hg19) ; chr1:g.215674527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674527T>A , CM000663.2:g.215674527T>A	GRCh38
NC_000001.10:g.215847869T>A , CM000663.1:g.215847869T>A	GRCh37
NC_000001.9:g.213914492T>A	NCBI36
NG_009497.1:g.753870A>T
NG_009497.2:g.753922A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13384A>T MANE Select	ENSP00000305941.3:p.Ile4462Phe
ENST00000674083.1:c.13384A>T	ENSP00000501296.1:p.Ile4462Phe
ENST00000307340.7:c.13384A>T	ENSP00000305941.3:p.Ile4462Phe
NM_206933.2:c.13384A>T	NP_996816.2:p.Ile4462Phe
NM_206933.3:c.13384A>T	NP_996816.2:p.Ile4462Phe
NM_206933.4:c.13384A>T MANE Select	NP_996816.3:p.Ile4462Phe