Canonical Allele Identifier: CA893043015

Gene: EVA1A

Linked Data

• dbSNP Id: rs1240520770
• MyVariant Identifiers: chr2:g.75792284G>A (hg19) ; chr2:g.75565158G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75565158G>A , CM000664.2:g.75565158G>A	GRCh38
NC_000002.11:g.75792284G>A , CM000664.1:g.75792284G>A	GRCh37
NC_000002.10:g.75645792G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233712.5:c.-192+4318C>T	ENSP00000233712.1:n.-192+4318C>T
ENST00000486696.1:n.223+4318C>T
NM_032181.2:c.-192+4318C>T	NP_115557.1:n.-192+4318C>T
NM_032181.3:c.-192+4318C>T	NP_115557.1:n.-192+4318C>T