Canonical Allele Identifier: CA7429981
Gene: MAGEL2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.23645747G>T
GRCh37 chr15:g.23890894G>T
gnomAD v2:
15:23890894 G / T
gnomAD v4:
chr15-23645747-G-T
Joint Max Group AF 0.00001463 (AMR)
Exomes Max Group AF 0.00002034 (AMR)
ClinVar Allele:
1349567
ClinVar RCV:
RCV001974881
RCV003923381
ClinVar Variation:
1439166
dbSNP:
752097874
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23645747G>T , CM000677.2:g.23645747G>T GRCh38
NC_000015.9:g.23890894G>T , CM000677.1:g.23890894G>T GRCh37
NC_000015.8:g.21441987G>T NCBI36
NG_016776.1:g.7100C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.1996C>A MANE Select ENSP00000497810.1:p.Gln666Lys
ENST00000532292.2:c.1996C>A ENSP00000433433.2:p.Gln666Lys
NM_019066.4:c.1996C>A NP_061939.3:p.Gln666Lys
NM_019066.5:c.1996C>A MANE Select NP_061939.3:p.Gln666Lys
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