Canonical Allele Identifier: CA7429980
Gene: MAGEL2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.23645747G>C
GRCh37 chr15:g.23890894G>C
gnomAD v2:
15:23890894 G / C
gnomAD v3:
15:23645747 G / C
gnomAD v4:
chr15-23645747-G-C
Joint Max Group AF 0.00003479 (NFE)
Genomes Max Group AF 0.0000192 (AFR)
Exomes Max Group AF 0.0000352 (NFE)
ClinVar RCV:
RCV004749221
ClinVar Variation:
3355192
dbSNP:
752097874
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.1996C>G MANE Select ENSP00000497810.1:p.Gln666Glu
ENST00000532292.2:c.1996C>G ENSP00000433433.2:p.Gln666Glu
NM_019066.4:c.1996C>G NP_061939.3:p.Gln666Glu
NM_019066.5:c.1996C>G MANE Select NP_061939.3:p.Gln666Glu
Search 100 bp 5'
Search 100 bp 3'