Canonical Allele Identifier: CA344863663

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.216348672T>G (hg19) ; chr1:g.216175330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216175330T>G , CM000663.2:g.216175330T>G	GRCh38
NC_000001.10:g.216348672T>G , CM000663.1:g.216348672T>G	GRCh37
NC_000001.9:g.214415295T>G	NCBI36
NG_009497.1:g.253067A>C
NG_009497.2:g.253119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.4549A>C MANE Select	ENSP00000305941.3:p.Met1517Leu
ENST00000674083.1:c.4549A>C	ENSP00000501296.1:p.Met1517Leu
ENST00000307340.7:c.4549A>C	ENSP00000305941.3:p.Met1517Leu
ENST00000366942.3:c.4549A>C	ENSP00000355909.3:p.Met1517Leu
NM_007123.5:c.4549A>C	NP_009054.5:p.Met1517Leu
NM_206933.2:c.4549A>C	NP_996816.2:p.Met1517Leu
NM_206933.3:c.4549A>C	NP_996816.2:p.Met1517Leu
NM_007123.6:c.4549A>C	NP_009054.6:p.Met1517Leu
NM_206933.4:c.4549A>C MANE Select	NP_996816.3:p.Met1517Leu