Canonical Allele Identifier: CA584573603

Gene: MAL2

Linked Data

• dbSNP Id: rs1347843268
• gnomAD v2: 8-120224775-T-G
• gnomAD v3: 8-119212535-T-G
• gnomAD v4: 8-119212535-T-G
• MyVariant Identifiers: chr8:g.120224775T>G (hg19) ; chr8:g.119212535T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119212535T>G , CM000670.2:g.119212535T>G	GRCh38
NC_000008.10:g.120224775T>G , CM000670.1:g.120224775T>G	GRCh37
NC_000008.9:g.120293956T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000614891.5:c.132+3931T>G MANE Select	ENSP00000479708.1:n.132+3931T>G
ENST00000522112.6:c.-72-9052T>G	ENSP00000483044.1:n.-72-9052T>G
ENST00000531508.1:c.-73+3335T>G	ENSP00000484544.1:n.-73+3335T>G
ENST00000534619.5:c.-73+4442T>G	ENSP00000482729.1:n.-73+4442T>G
ENST00000614891.4:c.132+3931T>G	ENSP00000479708.1:n.132+3931T>G
NM_052886.2:c.132+3931T>G	NP_443118.1:n.132+3931T>G
XM_011516807.1:c.132+3931T>G	XP_011515109.1:n.132+3931T>G
XM_011516807.2:c.132+3931T>G	XP_011515109.1:n.132+3931T>G
NM_052886.3:c.132+3931T>G MANE Select	NP_443118.1:n.132+3931T>G