Canonical Allele Identifier: CA347703988

Gene: LMAN2L

Linked Data

• ClinVar Variation Id: 3068156
• ClinVar RCV Id: RCV003991836
• gnomAD v4: 2-96734408-C-T
• MyVariant Identifiers: chr2:g.97400145C>T (hg19) ; chr2:g.96734408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96734408C>T , CM000664.2:g.96734408C>T	GRCh38
NC_000002.11:g.97400145C>T , CM000664.1:g.97400145C>T	GRCh37
NC_000002.10:g.96763872C>T	NCBI36
NG_046866.1:g.10675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264963.9:c.424+1G>A MANE Select	ENSP00000264963.4:n.424+1G>A
ENST00000264963.8:c.424+1G>A	ENSP00000264963.4:n.424+1G>A
ENST00000377079.8:c.424+1G>A	ENSP00000366280.4:n.424+1G>A
ENST00000434524.5:c.*181+1G>A	ENSP00000413533.1:n.*181+1G>A
ENST00000434865.5:c.305+1G>A	ENSP00000387717.1:n.305+1G>A
ENST00000440610.5:c.305+1G>A	ENSP00000403283.1:n.305+1G>A
ENST00000446780.5:c.424+1G>A	ENSP00000417037.1:n.424+1G>A
ENST00000449221.5:c.305+1G>A	ENSP00000390197.1:n.305+1G>A
ENST00000480869.1:n.279+1G>A
NM_001142292.1:c.424+1G>A	NP_001135764.1:n.424+1G>A
NM_030805.3:c.424+1G>A	NP_110432.1:n.424+1G>A
NR_024518.1:n.460+1G>A
NR_024519.1:n.341+1G>A
NR_024520.1:n.341+1G>A
NR_024521.1:n.341+1G>A
XM_006712785.2:c.72+1G>A	XP_006712848.1:n.72+1G>A
XM_011511947.1:c.10+1G>A	XP_011510249.1:n.10+1G>A
XM_011511948.1:c.72+1G>A	XP_011510250.1:n.72+1G>A
NM_001322346.1:c.72+1G>A	NP_001309275.1:n.72+1G>A
NM_001322347.1:c.10+1G>A	NP_001309276.1:n.10+1G>A
NM_001322350.1:c.10+1G>A	NP_001309279.1:n.10+1G>A
NM_001322351.1:c.72+1G>A	NP_001309280.1:n.72+1G>A
NM_001322352.1:c.10+1G>A	NP_001309281.1:n.10+1G>A
NM_001322354.1:c.72+1G>A	NP_001309283.1:n.72+1G>A
NM_001322355.1:c.72+1G>A	NP_001309284.1:n.72+1G>A
NM_001322356.1:c.72+1G>A	NP_001309285.1:n.72+1G>A
XM_024453167.1:c.10+1G>A	XP_024308935.1:n.10+1G>A
NM_001142292.2:c.424+1G>A	NP_001135764.1:n.424+1G>A
NM_001322346.2:c.72+1G>A	NP_001309275.1:n.72+1G>A
NM_001322347.2:c.10+1G>A	NP_001309276.1:n.10+1G>A
NM_001322350.2:c.10+1G>A	NP_001309279.1:n.10+1G>A
NM_001322351.2:c.72+1G>A	NP_001309280.1:n.72+1G>A
NM_001322352.2:c.10+1G>A	NP_001309281.1:n.10+1G>A
NM_001322354.2:c.72+1G>A	NP_001309283.1:n.72+1G>A
NM_001322355.2:c.72+1G>A	NP_001309284.1:n.72+1G>A
NM_001322356.2:c.72+1G>A	NP_001309285.1:n.72+1G>A
NM_030805.4:c.424+1G>A MANE Select	NP_110432.1:n.424+1G>A