Canonical Allele Identifier: CA50607893

Gene: EVA1A

Linked Data

• dbSNP Id: rs956448971
• gnomAD v2: 2-75792195-T-C
• gnomAD v3: 2-75565069-T-C
• gnomAD v4: 2-75565069-T-C
• MyVariant Identifiers: chr2:g.75792195T>C (hg19) ; chr2:g.75565069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75565069T>C , CM000664.2:g.75565069T>C	GRCh38
NC_000002.11:g.75792195T>C , CM000664.1:g.75792195T>C	GRCh37
NC_000002.10:g.75645703T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233712.5:c.-192+4407A>G	ENSP00000233712.1:n.-192+4407A>G
ENST00000486696.1:n.223+4407A>G
NM_032181.2:c.-192+4407A>G	NP_115557.1:n.-192+4407A>G
NM_032181.3:c.-192+4407A>G	NP_115557.1:n.-192+4407A>G