Canonical Allele Identifier: CA50607902

Gene: EVA1A

Linked Data

• dbSNP Id: rs530950972
• gnomAD v3: 2-75565166-C-T
• gnomAD v4: 2-75565166-C-T
• MyVariant Identifiers: chr2:g.75792292C>T (hg19) ; chr2:g.75565166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.75565166C>T , CM000664.2:g.75565166C>T	GRCh38
NC_000002.11:g.75792292C>T , CM000664.1:g.75792292C>T	GRCh37
NC_000002.10:g.75645800C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233712.5:c.-192+4310G>A	ENSP00000233712.1:n.-192+4310G>A
ENST00000486696.1:n.223+4310G>A
NM_032181.2:c.-192+4310G>A	NP_115557.1:n.-192+4310G>A
NM_032181.3:c.-192+4310G>A	NP_115557.1:n.-192+4310G>A