Canonical Allele Identifier: CA423429896

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215853593A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680251A>C , CM000663.2:g.215680251A>C	GRCh38
NC_000001.10:g.215853593A>C , CM000663.1:g.215853593A>C	GRCh37
NC_000001.9:g.213920216A>C	NCBI36
NG_009497.1:g.748146T>G
NG_009497.2:g.748198T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.12192T>G MANE Select	ENSP00000305941.3:p.Ser4064=
ENST00000674083.1:c.12192T>G	ENSP00000501296.1:p.Ser4064=
ENST00000307340.7:c.12192T>G	ENSP00000305941.3:p.Ser4064=
NM_206933.2:c.12192T>G	NP_996816.2:p.Ser4064=
NM_206933.3:c.12192T>G	NP_996816.2:p.Ser4064=
NM_206933.4:c.12192T>G MANE Select	NP_996816.3:p.Ser4064=