Canonical Allele Identifier: CA927460

Gene: MCOLN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.84996815C>T , CM000663.2:g.84996815C>T	GRCh38
NC_000001.10:g.85462498C>T , CM000663.1:g.85462498C>T	GRCh37
NC_000001.9:g.85235086C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370608.8:c.58G>A MANE Select	ENSP00000359640.3:p.Val20Ile
ENST00000284027.5:c.-8+193G>A	ENSP00000284027.5:n.-8+193G>A
ENST00000370608.7:c.58G>A	ENSP00000359640.3:p.Val20Ile
ENST00000463065.5:c.58G>A	ENSP00000436299.1:p.Val20Ile
ENST00000531325.5:n.299G>A
ENST00000531874.1:n.299G>A
NM_153259.3:c.58G>A	NP_694991.2:p.Val20Ile
XM_005270719.2:c.-8+193G>A	XP_005270776.1:n.-8+193G>A
XM_005270720.2:c.58G>A	XP_005270777.1:p.Val20Ile
XM_006710552.2:c.-126G>A	XP_006710615.1:n.-126G>A
XM_011541189.1:c.58G>A	XP_011539491.1:p.Val20Ile
NM_001330647.1:c.-126G>A	NP_001317576.1:n.-126G>A
XM_005270719.3:c.-8+193G>A	XP_005270776.1:n.-8+193G>A
XM_017000923.1:c.58G>A	XP_016856412.1:p.Val20Ile
XR_001737090.2:n.299G>A
XR_001737091.2:n.299G>A
NM_153259.4:c.58G>A MANE Select	NP_694991.2:p.Val20Ile
NM_001330647.2:c.-126G>A	NP_001317576.1:n.-126G>A