Canonical Allele Identifier: CA13640680
Gene: LRTM2 HGNC NCBI
CACNA2D4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.1825415G>A , CM000674.2:g.1825415G>A GRCh38
NC_000012.11:g.1934581G>A , CM000674.1:g.1934581G>A GRCh37
NC_000012.10:g.1804842G>A NCBI36
NG_012663.1:g.98290C>T
NG_012663.2:g.98290C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299194.6:c.-258-1995G>A (LRTM2) MANE Select ENSP00000299194.1:n.-258-1995G>A
ENST00000382722.10:c.2552-13692C>T (CACNA2D4) MANE Select ENSP00000372169.4:n.2552-13692C>T
ENST00000280663.12:n.2745-13692C>T (CACNA2D4)
ENST00000299194.5:c.-258-1995G>A (LRTM2) ENSP00000299194.1:n.-258-1995G>A
ENST00000382722.9:c.2552-13692C>T (CACNA2D4) ENSP00000372169.4:n.2552-13692C>T
ENST00000444595.6:c.*798-14828C>T (CACNA2D4) ENSP00000403371.2:n.*798-14828C>T
ENST00000535041.5:c.-261-1992G>A (LRTM2) ENSP00000444737.1:n.-261-1992G>A
ENST00000537784.5:c.393-13692C>T (CACNA2D4)
ENST00000539859.1:n.232-1995G>A (LRTM2)
ENST00000540378.1:n.241+4601G>A (LRTM2)
ENST00000542529.5:n.306-1995G>A (LRTM2)
ENST00000543694.1:c.-258-1995G>A (LRTM2) ENSP00000444104.1:n.-258-1995G>A
ENST00000543730.1:n.305+4601G>A (LRTM2)
ENST00000543818.5:c.-294-1995G>A (LRTM2) ENSP00000446278.1:n.-294-1995G>A
ENST00000544489.5:n.244-1995G>A (LRTM2)
ENST00000545157.1:n.333-1992G>A (LRTM2)
ENST00000546167.5:c.-258-1995G>A (LRTM2) ENSP00000438678.1:n.-258-1995G>A
ENST00000585708.5:c.2360-13692C>T (CACNA2D4) ENSP00000467697.1:n.2360-13692C>T
ENST00000585732.1:c.2135-13692C>T (CACNA2D4) ENSP00000468080.1:n.2135-13692C>T
ENST00000586184.5:c.2552-13692C>T (CACNA2D4) ENSP00000465060.1:n.2552-13692C>T
ENST00000587995.5:c.2477-13692C>T (CACNA2D4) ENSP00000465372.1:n.2477-13692C>T
ENST00000588077.5:c.2360-13692C>T (CACNA2D4) ENSP00000468530.1:n.2360-13692C>T
NM_001039029.2:c.-258-1995G>A (LRTM2) NP_001034118.1:n.-258-1995G>A
NM_001163925.1:c.-294-1995G>A (LRTM2) NP_001157397.1:n.-294-1995G>A
NM_001163926.1:c.-261-1992G>A (LRTM2) NP_001157398.1:n.-261-1992G>A
NM_172364.4:c.2552-13692C>T (CACNA2D4) NP_758952.4:n.2552-13692C>T
XM_006719010.1:c.-381-1995G>A (LRTM2) XP_006719073.1:n.-381-1995G>A
XM_011521015.1:c.-479-1995G>A (LRTM2) XP_011519317.1:n.-479-1995G>A
XM_011521016.1:c.-482-1992G>A (LRTM2) XP_011519318.1:n.-482-1992G>A
XM_011521041.1:c.2489-13692C>T (CACNA2D4) XP_011519343.1:n.2489-13692C>T
XM_011521041.2:c.2489-13692C>T (CACNA2D4) XP_011519343.1:n.2489-13692C>T
NM_001039029.3:c.-258-1995G>A (LRTM2) MANE Select NP_001034118.1:n.-258-1995G>A
NM_172364.5:c.2552-13692C>T (CACNA2D4) MANE Select NP_758952.4:n.2552-13692C>T
NM_001163926.2:c.-261-1992G>A (LRTM2) NP_001157398.1:n.-261-1992G>A
NM_001163925.2:c.-294-1995G>A (LRTM2) NP_001157397.1:n.-294-1995G>A
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