Canonical Allele Identifier: CA430892818

Gene: BMPR2

Linked Data

• dbSNP Id: rs1690170890
• gnomAD v3: 2-202377326-C-T
• gnomAD v4: 2-202377326-C-T
• MyVariant Identifiers: chr2:g.203242049C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377326C>T , CM000664.2:g.202377326C>T	GRCh38
NC_000002.11:g.203242049C>T , CM000664.1:g.203242049C>T	GRCh37
NC_000002.10:g.202950294C>T	NCBI36
NG_009363.1:g.6000C>T , LRG_712:g.6000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.-149C>T MANE Select	ENSP00000363708.4:n.-149C>T
ENST00000374580.8:c.-149C>T	ENSP00000363708.4:n.-149C>T
NM_001204.6:c.-149C>T , LRG_712t1:c.-149C>T	NP_001195.2:n.-149C>T
XM_011511687.1:c.-149C>T	XP_011509989.1:n.-149C>T
XM_011511688.1:c.-149C>T	XP_011509990.1:n.-149C>T
NM_001204.7:c.-149C>T MANE Select	NP_001195.2:n.-149C>T