Canonical Allele Identifier: CA2580849020

Gene: MAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.119212566A>C , CM000670.2:g.119212566A>C	GRCh38
NC_000008.10:g.120224806A>C , CM000670.1:g.120224806A>C	GRCh37
NC_000008.9:g.120293987A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614891.5:c.132+3962A>C MANE Select	ENSP00000479708.1:n.132+3962A>C
ENST00000522112.6:c.-72-9021A>C	ENSP00000483044.1:n.-72-9021A>C
ENST00000531508.1:c.-73+3366A>C	ENSP00000484544.1:n.-73+3366A>C
ENST00000534619.5:c.-73+4473A>C	ENSP00000482729.1:n.-73+4473A>C
ENST00000614891.4:c.132+3962A>C	ENSP00000479708.1:n.132+3962A>C
NM_052886.2:c.132+3962A>C	NP_443118.1:n.132+3962A>C
XM_011516807.1:c.132+3962A>C	XP_011515109.1:n.132+3962A>C
XM_011516807.2:c.132+3962A>C	XP_011515109.1:n.132+3962A>C
NM_052886.3:c.132+3962A>C MANE Select	NP_443118.1:n.132+3962A>C