Canonical Allele Identifier: CA2061257

Gene: BMPR2

Linked Data

• dbSNP Id: rs767785984
• ExAC: 2:203384955 C / G
• gnomAD v2: 2-203384955-C-G
• gnomAD v3: 2-202520232-C-G
• gnomAD v4: 2-202520232-C-G
• MyVariant Identifiers: chr2:g.203384955C>G (hg19) ; chr2:g.203384955_203384957delinsGAT (hg19) ; chr2:g.202520232C>G (hg38) ; chr2:g.202520232_202520234delinsGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520232C>G , CM000664.2:g.202520232C>G	GRCh38
NC_000002.11:g.203384955C>G , CM000664.1:g.203384955C>G	GRCh37
NC_000002.10:g.203093200C>G	NCBI36
NG_009363.1:g.148906C>G , LRG_712:g.148906C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.967+31C>G MANE Select	ENSP00000363708.4:n.967+31C>G
ENST00000638587.1:c.898+31C>G	ENSP00000491062.1:n.898+31C>G
ENST00000374574.2:c.967+31C>G	ENSP00000363702.2:n.967+31C>G
ENST00000374580.8:c.967+31C>G	ENSP00000363708.4:n.967+31C>G
NM_001204.6:c.967+31C>G , LRG_712t1:c.967+31C>G	NP_001195.2:n.967+31C>G
XM_011511687.1:c.967+31C>G	XP_011509989.1:n.967+31C>G
XM_011511688.1:c.967+31C>G	XP_011509990.1:n.967+31C>G
NM_001204.7:c.967+31C>G MANE Select	NP_001195.2:n.967+31C>G