Canonical Allele Identifier: CA2061089

Gene: BMPR2

Linked Data

• dbSNP Id: rs761096267
• ExAC: 2:203332311 C / T
• gnomAD v2: 2-203332311-C-T
• gnomAD v3: 2-202467588-C-T
• gnomAD v4: 2-202467588-C-T
• MyVariant Identifiers: chr2:g.203332311C>T (hg19) ; chr2:g.202467588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467588C>T , CM000664.2:g.202467588C>T	GRCh38
NC_000002.11:g.203332311C>T , CM000664.1:g.203332311C>T	GRCh37
NC_000002.10:g.203040556C>T	NCBI36
NG_009363.1:g.96262C>T , LRG_712:g.96262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.317C>T MANE Select	ENSP00000363708.4:p.Pro106Leu
ENST00000638587.1:c.248C>T	ENSP00000491062.1:p.Pro83Leu
ENST00000374574.2:c.317C>T	ENSP00000363702.2:p.Pro106Leu
ENST00000374580.8:c.317C>T	ENSP00000363708.4:p.Pro106Leu
ENST00000479069.1:n.224C>T
NM_001204.6:c.317C>T , LRG_712t1:c.317C>T	NP_001195.2:p.Pro106Leu
XM_011511687.1:c.317C>T	XP_011509989.1:p.Pro106Leu
XM_011511688.1:c.317C>T	XP_011509990.1:p.Pro106Leu
NM_001204.7:c.317C>T MANE Select	NP_001195.2:p.Pro106Leu