Canonical Allele Identifier: CA1393512

Gene: USH2A

Linked Data

• ClinVar Variation Id: 440397
• ClinVar RCV Id: RCV000505942 ; RCV001834643
• dbSNP Id: rs751834009
• ExAC: 1:215853512 C / T
• gnomAD v2: 1-215853512-C-T
• gnomAD v3: 1-215680170-C-T
• gnomAD v4: 1-215680170-C-T
• COSMIC: COSM903856 ; COSM4868341
• MyVariant Identifiers: chr1:g.215853512C>T (hg19) ; chr1:g.215680170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215680170C>T , CM000663.2:g.215680170C>T	GRCh38
NC_000001.10:g.215853512C>T , CM000663.1:g.215853512C>T	GRCh37
NC_000001.9:g.213920135C>T	NCBI36
NG_009497.1:g.748227G>A
NG_009497.2:g.748279G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.12273G>A MANE Select	ENSP00000305941.3:p.Met4091Ile
ENST00000674083.1:c.12273G>A	ENSP00000501296.1:p.Met4091Ile
ENST00000307340.7:c.12273G>A	ENSP00000305941.3:p.Met4091Ile
NM_206933.2:c.12273G>A	NP_996816.2:p.Met4091Ile
NM_206933.3:c.12273G>A	NP_996816.2:p.Met4091Ile
NM_206933.4:c.12273G>A MANE Select	NP_996816.3:p.Met4091Ile