Canonical Allele Identifier: CA768340248

Gene: EIF2AK2

Linked Data

• dbSNP Id: rs1322946389
• MyVariant Identifiers: chr2:g.37376509G>C (hg19) ; chr2:g.37149366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37149366G>C , CM000664.2:g.37149366G>C	GRCh38
NC_000002.11:g.37376509G>C , CM000664.1:g.37376509G>C	GRCh37
NC_000002.10:g.37230013G>C	NCBI36
NG_030351.1:g.12682C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233057.9:c.-183-343C>G MANE Select	ENSP00000233057.4:n.-183-343C>G
ENST00000411537.7:n.29-343C>G
ENST00000679507.1:c.-16-1544C>G	ENSP00000506024.1:n.-16-1544C>G
ENST00000679979.1:c.-183-343C>G	ENSP00000506455.1:n.-183-343C>G
ENST00000680273.1:c.-183-343C>G	ENSP00000506203.1:n.-183-343C>G
ENST00000681329.1:n.157-343C>G
ENST00000681463.1:c.-75-451C>G	ENSP00000505138.1:n.-75-451C>G
ENST00000681507.1:c.-99-427C>G	ENSP00000505772.1:n.-99-427C>G
ENST00000233057.8:c.-183-343C>G	ENSP00000233057.4:n.-183-343C>G
ENST00000390013.3:c.-99-427C>G	ENSP00000374663.3:n.-99-427C>G
ENST00000395127.6:c.-417-109C>G	ENSP00000378559.2:n.-417-109C>G
ENST00000411537.6:c.-75-451C>G	ENSP00000393921.2:n.-75-451C>G
NM_001135651.2:c.-183-343C>G	NP_001129123.1:n.-183-343C>G
NM_002759.3:c.-417-109C>G	NP_002750.1:n.-417-109C>G
XM_011532987.1:c.-99-427C>G	XP_011531289.1:n.-99-427C>G
XM_011532987.2:c.-99-427C>G	XP_011531289.1:n.-99-427C>G
XM_017004503.1:c.-183-343C>G	XP_016859992.1:n.-183-343C>G
NM_001135651.3:c.-183-343C>G MANE Select	NP_001129123.1:n.-183-343C>G
NM_002759.4:c.-417-109C>G	NP_002750.1:n.-417-109C>G