Canonical Allele Identifier: CA2061479

Gene: BMPR2

Linked Data

• dbSNP Id: rs766177644
• ExAC: 2:203420364 CAGA / C
• gnomAD v2: 2-203420364-CAGA-C
• gnomAD v4: 2-202555641-CAGA-C
• MyVariant Identifiers: chr2:g.203420365_203420367del (hg19) ; chr2:g.202555642_202555644del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555648_202555650del , CM000664.2:g.202555648_202555650del	GRCh38
NC_000002.11:g.203420371_203420373del , CM000664.1:g.203420371_203420373del	GRCh37
NC_000002.10:g.203128616_203128618del	NCBI36
NG_009363.1:g.184322_184324del , LRG_712:g.184322_184324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1983_1985del MANE Select	ENSP00000363708.4:p.Glu661del
ENST00000638587.1:c.1914_1916del	ENSP00000491062.1:n.1914_1916del
ENST00000374574.2:c.1586+2760_1586+2762del	ENSP00000363702.2:n.1586+2760_1586+2762del
ENST00000374580.8:c.1983_1985del	ENSP00000363708.4:p.Glu661del
NM_001204.6:c.1983_1985del , LRG_712t1:c.1983_1985del	NP_001195.2:p.Glu661del
XM_011511687.1:c.1983_1985del	XP_011509989.1:p.Glu661del
XM_011511688.1:c.1586+2760_1586+2762del	XP_011509990.1:n.1586+2760_1586+2762del
NM_001204.7:c.1983_1985del MANE Select	NP_001195.2:p.Glu661del