Canonical Allele Identifier: CA10670778

Gene: MAST2

Linked Data

• dbSNP Id: rs12124649
• gnomAD v2: 1-46499207-A-T
• gnomAD v3: 1-46033535-A-T
• gnomAD v4: 1-46033535-A-T
• MyVariant Identifiers: chr1:g.46499207A>T (hg19) ; chr1:g.46499207_46499208delinsTG (hg19) ; chr1:g.46033535A>T (hg38) ; chr1:g.46033535_46033536delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46033535A>T , CM000663.2:g.46033535A>T	GRCh38
NC_000001.10:g.46499207A>T , CM000663.1:g.46499207A>T	GRCh37
NC_000001.9:g.46271794A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361297.7:c.3538-267A>T MANE Select	ENSP00000354671.2:n.3538-267A>T
ENST00000674079.1:c.3109-267A>T	ENSP00000501318.1:n.3109-267A>T
ENST00000361297.6:c.3538-267A>T	ENSP00000354671.2:n.3538-267A>T
ENST00000372009.3:c.*9-267A>T	ENSP00000361079.3:n.*9-267A>T
NM_015112.2:c.3538-267A>T	NP_055927.2:n.3538-267A>T
XM_005270652.3:c.3559-267A>T	XP_005270709.1:n.3559-267A>T
XM_005270654.2:c.3538-267A>T	XP_005270711.1:n.3538-267A>T
XM_005270655.3:c.3304-267A>T	XP_005270712.1:n.3304-267A>T
XM_005270656.3:c.3277-267A>T	XP_005270713.1:n.3277-267A>T
XM_006710475.2:c.3556-267A>T	XP_006710538.1:n.3556-267A>T
XM_006710477.2:c.3109-267A>T	XP_006710540.1:n.3109-267A>T
XM_011541059.1:c.3754-267A>T	XP_011539361.1:n.3754-267A>T
XM_011541060.1:c.3751-267A>T	XP_011539362.1:n.3751-267A>T
XM_011541061.1:c.3754-267A>T	XP_011539363.1:n.3754-267A>T
XM_011541062.1:c.3733-267A>T	XP_011539364.1:n.3733-267A>T
XM_011541063.1:c.3604-267A>T	XP_011539365.1:n.3604-267A>T
XM_011541064.1:c.3595-267A>T	XP_011539366.1:n.3595-267A>T
XM_011541065.1:c.3337-267A>T	XP_011539367.1:n.3337-267A>T
XM_011541066.1:c.3076-267A>T	XP_011539368.1:n.3076-267A>T
XM_011541067.1:c.3073-267A>T	XP_011539369.1:n.3073-267A>T
XM_011541068.1:c.3052-267A>T	XP_011539370.1:n.3052-267A>T
XM_011541069.1:c.3754-267A>T	XP_011539371.1:n.3754-267A>T
NM_001319245.1:c.3538-267A>T	NP_001306174.1:n.3538-267A>T
NM_001324320.1:c.3559-267A>T	NP_001311249.1:n.3559-267A>T
NM_001324321.1:c.3076-267A>T	NP_001311250.1:n.3076-267A>T
XM_005270656.5:c.3277-267A>T	XP_005270713.1:n.3277-267A>T
XM_006710477.3:c.3109-267A>T	XP_006710540.1:n.3109-267A>T
XM_011541059.2:c.3754-267A>T	XP_011539361.1:n.3754-267A>T
XM_011541061.2:c.3754-267A>T	XP_011539363.1:n.3754-267A>T
XM_011541062.2:c.3733-267A>T	XP_011539364.1:n.3733-267A>T
XM_011541064.2:c.3595-267A>T	XP_011539366.1:n.3595-267A>T
XM_011541067.2:c.3073-267A>T	XP_011539369.1:n.3073-267A>T
XM_011541069.2:c.3754-267A>T	XP_011539371.1:n.3754-267A>T
XM_017000752.1:c.3325-267A>T	XP_016856241.1:n.3325-267A>T
XM_017000753.1:c.3214-267A>T	XP_016856242.1:n.3214-267A>T
XM_017000754.1:c.3193-267A>T	XP_016856243.1:n.3193-267A>T
XM_017000755.1:c.3130-267A>T	XP_016856244.1:n.3130-267A>T
NM_015112.3:c.3538-267A>T MANE Select	NP_055927.2:n.3538-267A>T
NM_001319245.2:c.3538-267A>T	NP_001306174.1:n.3538-267A>T
NM_001324320.2:c.3559-267A>T	NP_001311249.1:n.3559-267A>T
NM_001324321.2:c.3076-267A>T	NP_001311250.1:n.3076-267A>T