Canonical Allele Identifier: CA763417564

Gene: BMPR2

Linked Data

• dbSNP Id: rs1260416949
• gnomAD v3: 2-202464740-GAC-G
• gnomAD v4: 2-202464740-GAC-G
• MyVariant Identifiers: chr2:g.203329464_203329465del (hg19) ; chr2:g.202464741_202464742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464742_202464743del , CM000664.2:g.202464742_202464743del	GRCh38
NC_000002.11:g.203329465_203329466del , CM000664.1:g.203329465_203329466del	GRCh37
NC_000002.10:g.203037710_203037711del	NCBI36
NG_009363.1:g.93416_93417del , LRG_712:g.93416_93417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.77-67_77-66del MANE Select	ENSP00000363708.4:n.77-67_77-66del
ENST00000374574.2:c.77-67_77-66del	ENSP00000363702.2:n.77-67_77-66del
ENST00000374580.8:c.77-67_77-66del	ENSP00000363708.4:n.77-67_77-66del
NM_001204.6:c.77-67_77-66del , LRG_712t1:c.77-67_77-66del	NP_001195.2:n.77-67_77-66del
XM_011511687.1:c.77-67_77-66del	XP_011509989.1:n.77-67_77-66del
XM_011511688.1:c.77-67_77-66del	XP_011509990.1:n.77-67_77-66del
NM_001204.7:c.77-67_77-66del MANE Select	NP_001195.2:n.77-67_77-66del