Canonical Allele Identifier: CA344834364

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215953349C>G (hg19) ; chr1:g.215780007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215780007C>G , CM000663.2:g.215780007C>G	GRCh38
NC_000001.10:g.215953349C>G , CM000663.1:g.215953349C>G	GRCh37
NC_000001.9:g.214019972C>G	NCBI36
NG_009497.1:g.648390G>C
NG_009497.2:g.648442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10775G>C MANE Select	ENSP00000305941.3:p.Ser3592Thr
ENST00000674083.1:c.10775G>C	ENSP00000501296.1:p.Ser3592Thr
ENST00000307340.7:c.10775G>C	ENSP00000305941.3:p.Ser3592Thr
NM_206933.2:c.10775G>C	NP_996816.2:p.Ser3592Thr
NM_206933.3:c.10775G>C	NP_996816.2:p.Ser3592Thr
NM_206933.4:c.10775G>C MANE Select	NP_996816.3:p.Ser3592Thr