Canonical Allele Identifier: CA344836365

Gene: USH2A

Linked Data

• gnomAD v4: 1-215782088-T-C
• MyVariant Identifiers: chr1:g.215955430T>C (hg19) ; chr1:g.215782088T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215782088T>C , CM000663.2:g.215782088T>C	GRCh38
NC_000001.10:g.215955430T>C , CM000663.1:g.215955430T>C	GRCh37
NC_000001.9:g.214022053T>C	NCBI36
NG_009497.1:g.646309A>G
NG_009497.2:g.646361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.10694A>G MANE Select	ENSP00000305941.3:p.Tyr3565Cys
ENST00000674083.1:c.10694A>G	ENSP00000501296.1:p.Tyr3565Cys
ENST00000307340.7:c.10694A>G	ENSP00000305941.3:p.Tyr3565Cys
NM_206933.2:c.10694A>G	NP_996816.2:p.Tyr3565Cys
NM_206933.3:c.10694A>G	NP_996816.2:p.Tyr3565Cys
NM_206933.4:c.10694A>G MANE Select	NP_996816.3:p.Tyr3565Cys