Canonical Allele Identifier: CA3589471
Gene: GMCL2 HGNC NCBI
COSMIC:
COSN15630030 (not active)
COSN15632769 (not active)
COSN15636290 (not active)
COSN15637974 (not active)
COSN15638855 (not active)
COSN15658738 (not active)
MyVariant.info:
GRCh38 chr5:g.178186543C>T
GRCh37 chr5:g.177613544C>T
gnomAD v2:
5:177613544 C / T
gnomAD v3:
5:178186543 C / T
gnomAD v4:
chr5-178186543-C-T
Joint Max Group AF 0.24060402 (AFR)
Genomes Max Group AF 0.23758521 (AFR)
Exomes Max Group AF 0.24200287 (AFR)
dbSNP:
2961663
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178186543C>T , CM000667.2:g.178186543C>T GRCh38
NC_000005.9:g.177613544C>T , CM000667.1:g.177613544C>T GRCh37
NC_000005.8:g.177546150C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000463439.3:c.757G>A MANE Select ENSP00000497178.1:p.Gly253Ser
ENST00000463439.1:n.757G>A
NR_003281.1:n.890G>A
NM_001358008.1:c.757G>A NP_001344937.1:p.Gly253Ser
NM_001358008.2:c.757G>A MANE Select NP_001344937.1:p.Gly253Ser
Search 100 bp 5'
Search 100 bp 3'