Canonical Allele Identifier: CA2060985

Gene: BMPR2

Linked Data

• dbSNP Id: rs567729546
• ExAC: 2:203242158 T / G
• gnomAD v2: 2-203242158-T-G
• gnomAD v3: 2-202377435-T-G
• gnomAD v4: 2-202377435-T-G
• MyVariant Identifiers: chr2:g.203242158T>G (hg19) ; chr2:g.202377435T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377435T>G , CM000664.2:g.202377435T>G	GRCh38
NC_000002.11:g.203242158T>G , CM000664.1:g.203242158T>G	GRCh37
NC_000002.10:g.202950403T>G	NCBI36
NG_009363.1:g.6109T>G , LRG_712:g.6109T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.-40T>G MANE Select	ENSP00000363708.4:n.-40T>G
ENST00000374574.2:c.-40T>G	ENSP00000363702.2:n.-40T>G
ENST00000374580.8:c.-40T>G	ENSP00000363708.4:n.-40T>G
NM_001204.6:c.-40T>G , LRG_712t1:c.-40T>G	NP_001195.2:n.-40T>G
XM_011511687.1:c.-40T>G	XP_011509989.1:n.-40T>G
XM_011511688.1:c.-40T>G	XP_011509990.1:n.-40T>G
NM_001204.7:c.-40T>G MANE Select	NP_001195.2:n.-40T>G