Canonical Allele Identifier: CA2662706775

Gene: BMPR2

Linked Data

• gnomAD v4: 2-202556410-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556410_202556411insTG , CM000664.2:g.202556410_202556411insTG	GRCh38
NC_000002.11:g.203421133_203421134insTG , CM000664.1:g.203421133_203421134insTG	GRCh37
NC_000002.10:g.203129378_203129379insTG	NCBI36
NG_009363.1:g.185084_185085insTG , LRG_712:g.185084_185085insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2745_2746insTG MANE Select	ENSP00000363708.4:p.Leu916CysfsTer?
ENST00000638587.1:c.2676_2677insTG	ENSP00000491062.1:n.2676_2677insTG
ENST00000374574.2:c.1587-3286_1587-3285insTG	ENSP00000363702.2:n.1587-3286_1587-3285insTG
ENST00000374580.8:c.2745_2746insTG	ENSP00000363708.4:p.Leu916CysfsTer?
NM_001204.6:c.2745_2746insTG , LRG_712t1:c.2745_2746insTG	NP_001195.2:p.Leu916CysfsTer?
XM_011511687.1:c.2745_2746insTG	XP_011509989.1:p.Leu916CysfsTer?
XM_011511688.1:c.1587-3286_1587-3285insTG	XP_011509990.1:n.1587-3286_1587-3285insTG
NM_001204.7:c.2745_2746insTG MANE Select	NP_001195.2:p.Leu916CysfsTer?