Canonical Allele Identifier: CA7522719
Gene: LCMT2 HGNC NCBI
ADAL HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.43330486C>T
GRCh37 chr15:g.43622684C>T
Revel Score:
ENST00000305641 (MANE Select) 0.020
gnomAD v2:
15:43622684 C / T
gnomAD v3:
15:43330486 C / T
gnomAD v4:
chr15-43330486-C-T
Joint Max Group AF 0.00005041 (NFE)
Genomes Max Group AF 0.00004767 (NFE)
Exomes Max Group AF 0.00004791 (NFE)
ClinVar RCV:
RCV004071465
ClinVar Variation:
2207081
dbSNP:
201600700
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43330486C>T , CM000677.2:g.43330486C>T GRCh38
NC_000015.9:g.43622684C>T , CM000677.1:g.43622684C>T GRCh37
NC_000015.8:g.41409976C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000305641.7:c.4G>A (LCMT2) MANE Select ENSP00000307214.5:p.Gly2Ser
ENST00000305641.6:c.4G>A (LCMT2) ENSP00000307214.5:p.Gly2Ser
ENST00000567039.1:c.4G>A (LCMT2) ENSP00000457403.1:p.Gly2Ser
NM_001012969.3:c.-661C>T (ADAL) NP_001012987.1:n.-661C>T
NM_001159280.2:c.-762C>T (ADAL) NP_001152752.1:n.-762C>T
NM_014793.4:c.4G>A (LCMT2) NP_055608.2:p.Gly2Ser
XM_011521293.1:c.-346C>T (ADAL) XP_011519595.1:n.-346C>T
NM_001324364.1:c.-470C>T (ADAL) NP_001311293.1:n.-470C>T
NM_001324365.1:c.-621C>T (ADAL) NP_001311294.1:n.-621C>T
NM_001324366.1:c.-762C>T (ADAL) NP_001311295.1:n.-762C>T
NM_001324367.1:c.-762C>T (ADAL) NP_001311296.1:n.-762C>T
NM_001324368.1:c.-762C>T (ADAL) NP_001311297.1:n.-762C>T
XM_024449859.1:c.-376C>T (ADAL) XP_024305627.1:n.-376C>T
NM_014793.5:c.4G>A (LCMT2) MANE Select NP_055608.2:p.Gly2Ser
NM_001324364.2:c.-470C>T (ADAL) NP_001311293.1:n.-470C>T
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