Canonical Allele Identifier: CA1393303

Gene: USH2A

Linked Data

• ClinVar Variation Id: 440396
• ClinVar RCV Id: RCV000507584 ; RCV001074764 ; RCV001374885 ; RCV001328024 ; RCV001425706
• dbSNP Id: rs148033154
• ExAC: 1:215847892 A / T
• gnomAD v2: 1-215847892-A-T
• gnomAD v3: 1-215674550-A-T
• gnomAD v4: 1-215674550-A-T
• MyVariant Identifiers: chr1:g.215847892A>T (hg19) ; chr1:g.215674550A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215674550A>T , CM000663.2:g.215674550A>T	GRCh38
NC_000001.10:g.215847892A>T , CM000663.1:g.215847892A>T	GRCh37
NC_000001.9:g.213914515A>T	NCBI36
NG_009497.1:g.753847T>A
NG_009497.2:g.753899T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.13361T>A MANE Select	ENSP00000305941.3:p.Val4454Asp
ENST00000674083.1:c.13361T>A	ENSP00000501296.1:p.Val4454Asp
ENST00000307340.7:c.13361T>A	ENSP00000305941.3:p.Val4454Asp
NM_206933.2:c.13361T>A	NP_996816.2:p.Val4454Asp
NM_206933.3:c.13361T>A	NP_996816.2:p.Val4454Asp
NM_206933.4:c.13361T>A MANE Select	NP_996816.3:p.Val4454Asp