Canonical Allele Identifier: CA52480415

Gene: LMAN2L

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96707332A>C , CM000664.2:g.96707332A>C	GRCh38
NC_000002.11:g.97373069A>C , CM000664.1:g.97373069A>C	GRCh37
NC_000002.10:g.96736796A>C	NCBI36
NG_046866.1:g.37751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264963.9:c.971T>G MANE Select	ENSP00000264963.4:p.Phe324Cys
ENST00000264963.8:c.971T>G	ENSP00000264963.4:p.Phe324Cys
ENST00000377079.8:c.1004T>G	ENSP00000366280.4:p.Phe335Cys
ENST00000434524.5:c.*728T>G	ENSP00000413533.1:n.*728T>G
ENST00000434865.5:c.*480T>G	ENSP00000387717.1:n.*480T>G
ENST00000440610.5:c.*433T>G	ENSP00000403283.1:n.*433T>G
ENST00000446780.5:c.*411T>G	ENSP00000417037.1:n.*411T>G
ENST00000449221.5:c.*513T>G	ENSP00000390197.1:n.*513T>G
NM_001142292.1:c.1004T>G	NP_001135764.1:p.Phe335Cys
NM_030805.3:c.971T>G	NP_110432.1:p.Phe324Cys
NR_024518.1:n.957T>G
NR_024519.1:n.921T>G
NR_024520.1:n.888T>G
NR_024521.1:n.805T>G
XM_006712785.2:c.536T>G	XP_006712848.1:p.Phe179Cys
XM_011511947.1:c.590T>G	XP_011510249.1:p.Phe197Cys
XM_011511948.1:c.536T>G	XP_011510250.1:p.Phe179Cys
NM_001322346.1:c.569T>G	NP_001309275.1:p.Phe190Cys
NM_001322347.1:c.590T>G	NP_001309276.1:p.Phe197Cys
NM_001322350.1:c.557T>G	NP_001309279.1:p.Phe186Cys
NM_001322351.1:c.536T>G	NP_001309280.1:p.Phe179Cys
NM_001322352.1:c.590T>G	NP_001309281.1:p.Phe197Cys
NM_001322354.1:c.569T>G	NP_001309283.1:p.Phe190Cys
NM_001322355.1:c.536T>G	NP_001309284.1:p.Phe179Cys
NM_001322356.1:c.536T>G	NP_001309285.1:p.Phe179Cys
XM_024453167.1:c.557T>G	XP_024308935.1:p.Phe186Cys
NM_001142292.2:c.1004T>G	NP_001135764.1:p.Phe335Cys
NM_001322346.2:c.569T>G	NP_001309275.1:p.Phe190Cys
NM_001322347.2:c.590T>G	NP_001309276.1:p.Phe197Cys
NM_001322350.2:c.557T>G	NP_001309279.1:p.Phe186Cys
NM_001322351.2:c.536T>G	NP_001309280.1:p.Phe179Cys
NM_001322352.2:c.590T>G	NP_001309281.1:p.Phe197Cys
NM_001322354.2:c.569T>G	NP_001309283.1:p.Phe190Cys
NM_001322355.2:c.536T>G	NP_001309284.1:p.Phe179Cys
NM_001322356.2:c.536T>G	NP_001309285.1:p.Phe179Cys
NM_030805.4:c.971T>G MANE Select	NP_110432.1:p.Phe324Cys