Canonical Allele Identifier: CA1395161

Gene: USH2A

Linked Data

• ClinVar Variation Id: 228218
• ClinVar RCV Id: RCV000724908 ; RCV004020605 ; RCV004532748 ; RCV000220285 ; RCV001273038
• dbSNP Id: rs142786231
• ExAC: 1:216173866 C / A
• gnomAD v2: 1-216173866-C-A
• gnomAD v3: 1-216000524-C-A
• gnomAD v4: 1-216000524-C-A
• MyVariant Identifiers: chr1:g.216173866C>A (hg19) ; chr1:g.216000524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216000524C>A , CM000663.2:g.216000524C>A	GRCh38
NC_000001.10:g.216173866C>A , CM000663.1:g.216173866C>A	GRCh37
NC_000001.9:g.214240489C>A	NCBI36
NG_009497.1:g.427873G>T
NG_009497.2:g.427925G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.6364G>T MANE Select	ENSP00000305941.3:p.Ala2122Ser
ENST00000674083.1:c.6364G>T	ENSP00000501296.1:p.Ala2122Ser
ENST00000307340.7:c.6364G>T	ENSP00000305941.3:p.Ala2122Ser
NM_206933.2:c.6364G>T	NP_996816.2:p.Ala2122Ser
NM_206933.3:c.6364G>T	NP_996816.2:p.Ala2122Ser
NM_206933.4:c.6364G>T MANE Select	NP_996816.3:p.Ala2122Ser