Canonical Allele Identifier: CA1228526
Gene: MPC2 HGNC NCBI
COSMIC:
COSM1336022 (not active)
MyVariant.info:
GRCh38 chr1:g.167924521G>A
GRCh37 chr1:g.167893759G>A
gnomAD v2:
1:167893759 G / A
gnomAD v3:
1:167924521 G / A
gnomAD v4:
chr1-167924521-G-A
Joint Max Group AF 0.60477121 (AFR)
Genomes Max Group AF 0.60107712 (AFR)
Exomes Max Group AF 0.60513674 (AFR)
dbSNP:
9618
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167924521G>A , CM000663.2:g.167924521G>A GRCh38
NC_000001.10:g.167893759G>A , CM000663.1:g.167893759G>A GRCh37
NC_000001.9:g.166160383G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000271373.9:c.126C>T MANE Select ENSP00000271373.4:p.Phe42=
ENST00000271373.8:c.126C>T ENSP00000271373.4:p.Phe42=
ENST00000367846.8:c.126C>T ENSP00000356820.4:p.Phe42=
ENST00000458574.1:c.126C>T ENSP00000392874.1:p.Phe42=
NM_001143674.3:c.126C>T NP_001137146.1:p.Phe42=
NM_015415.3:c.126C>T NP_056230.1:p.Phe42=
NR_026550.2:n.486C>T
XM_006711266.2:c.126C>T XP_006711329.1:p.Phe42=
XM_006711266.3:c.126C>T XP_006711329.1:p.Phe42=
NM_001143674.4:c.126C>T MANE Select NP_001137146.1:p.Phe42=
NR_026550.3:n.281C>T
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