Canonical Allele Identifier: CA423397876

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216497590G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324248G>C , CM000663.2:g.216324248G>C	GRCh38
NC_000001.10:g.216497590G>C , CM000663.1:g.216497590G>C	GRCh37
NC_000001.9:g.214564213G>C	NCBI36
NG_009497.1:g.104149C>G
NG_009497.2:g.104201C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1248C>G MANE Select	ENSP00000305941.3:p.Ala416=
ENST00000674083.1:c.1248C>G	ENSP00000501296.1:p.Ala416=
ENST00000307340.7:c.1248C>G	ENSP00000305941.3:p.Ala416=
ENST00000366942.3:c.1248C>G	ENSP00000355909.3:p.Ala416=
NM_007123.5:c.1248C>G	NP_009054.5:p.Ala416=
NM_206933.2:c.1248C>G	NP_996816.2:p.Ala416=
NM_206933.3:c.1248C>G	NP_996816.2:p.Ala416=
NM_007123.6:c.1248C>G	NP_009054.6:p.Ala416=
NM_206933.4:c.1248C>G MANE Select	NP_996816.3:p.Ala416=