Canonical Allele Identifier: CA344834488

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215916517A>G (hg19) ; chr1:g.215743175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215743175A>G , CM000663.2:g.215743175A>G	GRCh38
NC_000001.10:g.215916517A>G , CM000663.1:g.215916517A>G	GRCh37
NC_000001.9:g.213983140A>G	NCBI36
NG_009497.1:g.685222T>C
NG_009497.2:g.685274T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.11548+2T>C MANE Select	ENSP00000305941.3:n.11548+2T>C
ENST00000674083.1:c.11548+2T>C	ENSP00000501296.1:n.11548+2T>C
ENST00000307340.7:c.11548+2T>C	ENSP00000305941.3:n.11548+2T>C
NM_206933.2:c.11548+2T>C	NP_996816.2:n.11548+2T>C
NM_206933.3:c.11548+2T>C	NP_996816.2:n.11548+2T>C
NM_206933.4:c.11548+2T>C MANE Select	NP_996816.3:n.11548+2T>C