Canonical Allele Identifier: CA1814596339
Gene: MAL2 HGNC NCBI

Linked Data

dbSNP Id: rs1817282716
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119212540G>A , CM000670.2:g.119212540G>A GRCh38
NC_000008.10:g.120224780G>A , CM000670.1:g.120224780G>A GRCh37
NC_000008.9:g.120293961G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000614891.5:c.132+3936G>A MANE Select ENSP00000479708.1:n.132+3936G>A
ENST00000522112.6:c.-72-9047G>A ENSP00000483044.1:n.-72-9047G>A
ENST00000531508.1:c.-73+3340G>A ENSP00000484544.1:n.-73+3340G>A
ENST00000534619.5:c.-73+4447G>A ENSP00000482729.1:n.-73+4447G>A
ENST00000614891.4:c.132+3936G>A ENSP00000479708.1:n.132+3936G>A
NM_052886.2:c.132+3936G>A NP_443118.1:n.132+3936G>A
XM_011516807.1:c.132+3936G>A XP_011515109.1:n.132+3936G>A
XM_011516807.2:c.132+3936G>A XP_011515109.1:n.132+3936G>A
NM_052886.3:c.132+3936G>A MANE Select NP_443118.1:n.132+3936G>A
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