Canonical Allele Identifier: CA893042914

Gene: EVA1A

Linked Data

• dbSNP Id: rs1422410052
• gnomAD v3: 2-75564994-C-A
• gnomAD v4: 2-75564994-C-A
• MyVariant Identifiers: chr2:g.75792120C>A (hg19) ; chr2:g.75564994C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75564994C>A , CM000664.2:g.75564994C>A	GRCh38
NC_000002.11:g.75792120C>A , CM000664.1:g.75792120C>A	GRCh37
NC_000002.10:g.75645628C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233712.5:c.-192+4482G>T	ENSP00000233712.1:n.-192+4482G>T
ENST00000486696.1:n.223+4482G>T
NM_032181.2:c.-192+4482G>T	NP_115557.1:n.-192+4482G>T
NM_032181.3:c.-192+4482G>T	NP_115557.1:n.-192+4482G>T