Canonical Allele Identifier: CA355383322

Gene: EIF2B5

Linked Data

• MyVariant Identifiers: chr3:g.183857878T>C (hg19) ; chr3:g.184140090T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140090T>C , CM000665.2:g.184140090T>C	GRCh38
NC_000003.11:g.183857878T>C , CM000665.1:g.183857878T>C	GRCh37
NC_000003.10:g.185340572T>C	NCBI36
NG_015826.1:g.10069T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.799T>C
ENST00000468748.7:n.759T>C
ENST00000484154.2:n.1387-1835T>C
ENST00000491008.6:n.1524T>C
ENST00000492226.2:n.773T>C
ENST00000492773.6:c.530T>C
ENST00000647636.1:c.776T>C	ENSP00000497505.1:p.Leu259Pro
ENST00000647909.1:c.800T>C	ENSP00000498164.1:p.Leu267Pro
ENST00000648145.1:c.544T>C
ENST00000648189.1:c.526T>C
ENST00000648256.1:c.748T>C	ENSP00000497356.1:p.Ser250Pro
ENST00000648314.1:c.776T>C	ENSP00000496920.1:p.Leu259Pro
ENST00000648599.1:c.*59T>C	ENSP00000497159.1:n.*59T>C
ENST00000648630.1:c.770T>C	ENSP00000497887.1:p.Leu257Pro
ENST00000648682.1:c.776T>C	ENSP00000498185.1:p.Leu259Pro
ENST00000648882.1:c.*602T>C	ENSP00000497603.1:n.*602T>C
ENST00000648890.1:c.776T>C	ENSP00000497503.1:p.Leu259Pro
ENST00000648915.2:c.776T>C MANE Select	ENSP00000497160.1:p.Leu259Pro
ENST00000649545.1:c.510T>C
ENST00000649688.1:c.*59T>C	ENSP00000497097.1:n.*59T>C
ENST00000649814.1:n.825T>C
ENST00000650270.1:c.643T>C
ENST00000273783.7:c.776T>C	ENSP00000273783.3:p.Leu259Pro
ENST00000432982.5:c.246-2147T>C
ENST00000444495.1:c.776T>C	ENSP00000409142.1:p.Leu259Pro
ENST00000468748.5:n.229T>C
ENST00000479833.1:n.92T>C
ENST00000481054.5:n.870T>C
ENST00000491008.5:n.740T>C
ENST00000491144.5:n.1216T>C
NM_003907.2:c.776T>C	NP_003898.2:p.Leu259Pro
XM_011513265.1:c.26T>C	XP_011511567.1:p.Leu9Pro
XR_924208.1:n.1727T>C
NM_003907.3:c.776T>C MANE Select	NP_003898.2:p.Leu259Pro
XM_011513266.3:c.-126T>C	XP_011511568.1:n.-126T>C
XR_001740352.2:n.1139T>C
XR_001740353.2:n.1139T>C
XR_924208.2:n.1139T>C