Canonical Allele Identifier: CA2171566104

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs2034723126
• gnomAD v4: 15-39977865-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39977865A>C , CM000677.2:g.39977865A>C	GRCh38
NC_000015.9:g.40270066A>C , CM000677.1:g.40270066A>C	GRCh37
NC_000015.8:g.38057358A>C	NCBI36
NG_034053.1:g.48742A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-213A>C MANE Select	ENSP00000263791.5:n.2250-213A>C
ENST00000263791.9:c.2250-213A>C	ENSP00000263791.5:n.2250-213A>C
ENST00000560855.5:c.1666-213A>C
ENST00000624709.1:n.887A>C
NM_001013703.3:c.2250-213A>C	NP_001013725.2:n.2250-213A>C
XM_005254392.1:c.2250-213A>C	XP_005254449.1:n.2250-213A>C
XM_011521599.1:c.2250-213A>C	XP_011519901.1:n.2250-213A>C
XM_011521600.1:c.2250-213A>C	XP_011519902.1:n.2250-213A>C
XM_005254392.3:c.2250-213A>C	XP_005254449.1:n.2250-213A>C
XM_011521599.2:c.2250-213A>C	XP_011519901.1:n.2250-213A>C
XM_011521600.3:c.2250-213A>C	XP_011519902.1:n.2250-213A>C
XM_017022219.2:c.2250-213A>C	XP_016877708.1:n.2250-213A>C
NM_001013703.4:c.2250-213A>C MANE Select	NP_001013725.2:n.2250-213A>C