Canonical Allele Identifier: CA64522398

Gene: BMPR2

Linked Data

• dbSNP Id: rs898157568
• gnomAD v3: 2-202377799-CAT-C
• gnomAD v4: 2-202377799-CAT-C
• MyVariant Identifiers: chr2:g.203242523_203242524del (hg19) ; chr2:g.202377800_202377801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377802_202377803del , CM000664.2:g.202377802_202377803del	GRCh38
NC_000002.11:g.203242525_203242526del , CM000664.1:g.203242525_203242526del	GRCh37
NC_000002.10:g.202950770_202950771del	NCBI36
NG_009363.1:g.6476_6477del , LRG_712:g.6476_6477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+252_76+253del MANE Select	ENSP00000363708.4:n.76+252_76+253del
ENST00000374574.2:c.76+252_76+253del	ENSP00000363702.2:n.76+252_76+253del
ENST00000374580.8:c.76+252_76+253del	ENSP00000363708.4:n.76+252_76+253del
NM_001204.6:c.76+252_76+253del , LRG_712t1:c.76+252_76+253del	NP_001195.2:n.76+252_76+253del
XM_011511687.1:c.76+252_76+253del	XP_011509989.1:n.76+252_76+253del
XM_011511688.1:c.76+252_76+253del	XP_011509990.1:n.76+252_76+253del
NM_001204.7:c.76+252_76+253del MANE Select	NP_001195.2:n.76+252_76+253del