Canonical Allele Identifier: CA344830336

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216052140G>A (hg19) ; chr1:g.215878798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215878798G>A , CM000663.2:g.215878798G>A	GRCh38
NC_000001.10:g.216052140G>A , CM000663.1:g.216052140G>A	GRCh37
NC_000001.9:g.214118763G>A	NCBI36
NG_009497.1:g.549599C>T
NG_009497.2:g.549651C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.8524C>T MANE Select	ENSP00000305941.3:p.Gln2842Ter
ENST00000674083.1:c.8524C>T	ENSP00000501296.1:p.Gln2842Ter
ENST00000307340.7:c.8524C>T	ENSP00000305941.3:p.Gln2842Ter
NM_206933.2:c.8524C>T	NP_996816.2:p.Gln2842Ter
NM_206933.3:c.8524C>T	NP_996816.2:p.Gln2842Ter
NM_206933.4:c.8524C>T MANE Select	NP_996816.3:p.Gln2842Ter