Canonical Allele Identifier: CA184914995

Gene: MAL2

Linked Data

• dbSNP Id: rs995050665
• gnomAD v3: 8-119212507-G-A
• gnomAD v4: 8-119212507-G-A
• MyVariant Identifiers: chr8:g.120224747G>A (hg19) ; chr8:g.119212507G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119212507G>A , CM000670.2:g.119212507G>A	GRCh38
NC_000008.10:g.120224747G>A , CM000670.1:g.120224747G>A	GRCh37
NC_000008.9:g.120293928G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000614891.5:c.132+3903G>A MANE Select	ENSP00000479708.1:n.132+3903G>A
ENST00000522112.6:c.-72-9080G>A	ENSP00000483044.1:n.-72-9080G>A
ENST00000531508.1:c.-73+3307G>A	ENSP00000484544.1:n.-73+3307G>A
ENST00000534619.5:c.-73+4414G>A	ENSP00000482729.1:n.-73+4414G>A
ENST00000614891.4:c.132+3903G>A	ENSP00000479708.1:n.132+3903G>A
NM_052886.2:c.132+3903G>A	NP_443118.1:n.132+3903G>A
XM_011516807.1:c.132+3903G>A	XP_011515109.1:n.132+3903G>A
XM_011516807.2:c.132+3903G>A	XP_011515109.1:n.132+3903G>A
NM_052886.3:c.132+3903G>A MANE Select	NP_443118.1:n.132+3903G>A