Canonical Allele Identifier: CA2061080

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 225305
• ClinVar RCV Id: RCV000488455 ; RCV001753635 ; RCV002517440 ; RCV002494550
• dbSNP Id: rs140683387
• ExAC: 2:203332270 A / C
• gnomAD v2: 2-203332270-A-C
• gnomAD v3: 2-202467547-A-C
• gnomAD v4: 2-202467547-A-C
• MyVariant Identifiers: chr2:g.203332270A>C (hg19) ; chr2:g.202467547A>C (hg38)
• PubMed: PMID:16429395 ; PMID:23675998 ; PMID:26387786

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467547A>C , CM000664.2:g.202467547A>C	GRCh38
NC_000002.11:g.203332270A>C , CM000664.1:g.203332270A>C	GRCh37
NC_000002.10:g.203040515A>C	NCBI36
NG_009363.1:g.96221A>C , LRG_712:g.96221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.276A>C MANE Select	ENSP00000363708.4:p.Gln92His
ENST00000638587.1:c.207A>C	ENSP00000491062.1:p.Gln69His
ENST00000374574.2:c.276A>C	ENSP00000363702.2:p.Gln92His
ENST00000374580.8:c.276A>C	ENSP00000363708.4:p.Gln92His
ENST00000479069.1:n.183A>C
NM_001204.6:c.276A>C , LRG_712t1:c.276A>C	NP_001195.2:p.Gln92His
XM_011511687.1:c.276A>C	XP_011509989.1:p.Gln92His
XM_011511688.1:c.276A>C	XP_011509990.1:p.Gln92His
NM_001204.7:c.276A>C MANE Select	NP_001195.2:p.Gln92His