Canonical Allele Identifier: CA893043002

Gene: EVA1A

Linked Data

• dbSNP Id: rs1236841132
• gnomAD v3: 2-75565129-T-TGGA
• gnomAD v4: 2-75565129-T-TGGA
• MyVariant Identifiers: chr2:g.75792255_75792256insGGA (hg19) ; chr2:g.75565129_75565130insGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75565131_75565133dup , CM000664.2:g.75565131_75565133dup	GRCh38
NC_000002.11:g.75792257_75792259dup , CM000664.1:g.75792257_75792259dup	GRCh37
NC_000002.10:g.75645765_75645767dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233712.5:c.-192+4344_-192+4346dup	ENSP00000233712.1:n.-192+4344_-192+4346dup
ENST00000486696.1:n.223+4344_223+4346dup
NM_032181.2:c.-192+4344_-192+4346dup	NP_115557.1:n.-192+4344_-192+4346dup
NM_032181.3:c.-192+4344_-192+4346dup	NP_115557.1:n.-192+4344_-192+4346dup