Canonical Allele Identifier: CA1118437745
Gene: MAL2 HGNC NCBI

Linked Data

dbSNP Id: rs1817282149
gnomAD v3: 8-119212472-T-G
gnomAD v4: 8-119212472-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119212472T>G , CM000670.2:g.119212472T>G GRCh38
NC_000008.10:g.120224712T>G , CM000670.1:g.120224712T>G GRCh37
NC_000008.9:g.120293893T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000614891.5:c.132+3868T>G MANE Select ENSP00000479708.1:n.132+3868T>G
ENST00000522112.6:c.-72-9115T>G ENSP00000483044.1:n.-72-9115T>G
ENST00000531508.1:c.-73+3272T>G ENSP00000484544.1:n.-73+3272T>G
ENST00000534619.5:c.-73+4379T>G ENSP00000482729.1:n.-73+4379T>G
ENST00000614891.4:c.132+3868T>G ENSP00000479708.1:n.132+3868T>G
NM_052886.2:c.132+3868T>G NP_443118.1:n.132+3868T>G
XM_011516807.1:c.132+3868T>G XP_011515109.1:n.132+3868T>G
XM_011516807.2:c.132+3868T>G XP_011515109.1:n.132+3868T>G
NM_052886.3:c.132+3868T>G MANE Select NP_443118.1:n.132+3868T>G
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