Canonical Allele Identifier: CA344844635

Gene: USH2A

Linked Data

• MyVariant Identifiers: chr1:g.215847697A>G (hg19) ; chr1:g.215674355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674355A>G , CM000663.2:g.215674355A>G	GRCh38
NC_000001.10:g.215847697A>G , CM000663.1:g.215847697A>G	GRCh37
NC_000001.9:g.213914320A>G	NCBI36
NG_009497.1:g.754042T>C
NG_009497.2:g.754094T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13556T>C MANE Select	ENSP00000305941.3:p.Leu4519Ser
ENST00000674083.1:c.13556T>C	ENSP00000501296.1:p.Leu4519Ser
ENST00000307340.7:c.13556T>C	ENSP00000305941.3:p.Leu4519Ser
NM_206933.2:c.13556T>C	NP_996816.2:p.Leu4519Ser
NM_206933.3:c.13556T>C	NP_996816.2:p.Leu4519Ser
NM_206933.4:c.13556T>C MANE Select	NP_996816.3:p.Leu4519Ser