Canonical Allele Identifier: CA2061114

Gene: BMPR2

Linked Data

• dbSNP Id: rs761580988
• ExAC: 2:203378398 C / T
• gnomAD v2: 2-203378398-C-T
• gnomAD v4: 2-202513675-C-T
• MyVariant Identifiers: chr2:g.203378398C>T (hg19) ; chr2:g.203378398_203378399delinsTT (hg19) ; chr2:g.202513675_202513676delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202513675C>T , CM000664.2:g.202513675C>T	GRCh38
NC_000002.11:g.203378398C>T , CM000664.1:g.203378398C>T	GRCh37
NC_000002.10:g.203086643C>T	NCBI36
NG_009363.1:g.142349C>T , LRG_712:g.142349C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.419-44C>T MANE Select	ENSP00000363708.4:n.419-44C>T
ENST00000638587.1:c.350-44C>T	ENSP00000491062.1:n.350-44C>T
ENST00000374574.2:c.419-44C>T	ENSP00000363702.2:n.419-44C>T
ENST00000374580.8:c.419-44C>T	ENSP00000363708.4:n.419-44C>T
NM_001204.6:c.419-44C>T , LRG_712t1:c.419-44C>T	NP_001195.2:n.419-44C>T
XM_011511687.1:c.419-44C>T	XP_011509989.1:n.419-44C>T
XM_011511688.1:c.419-44C>T	XP_011509990.1:n.419-44C>T
NM_001204.7:c.419-44C>T MANE Select	NP_001195.2:n.419-44C>T