Canonical Allele Identifier: CA2061227

Gene: BMPR2

Linked Data

• dbSNP Id: rs11390605
• ExAC: 2:203384776 CTT / C
• gnomAD v2: 2-203384776-CTT-C
• gnomAD v3: 2-202520053-CTT-C
• gnomAD v4: 2-202520053-CTT-C
• MyVariant Identifiers: chr2:g.203384777_203384778del (hg19) ; chr2:g.202520054_202520055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520064_202520065del , CM000664.2:g.202520064_202520065del	GRCh38
NC_000002.11:g.203384787_203384788del , CM000664.1:g.203384787_203384788del	GRCh37
NC_000002.10:g.203093032_203093033del	NCBI36
NG_009363.1:g.148738_148739del , LRG_712:g.148738_148739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-23_853-22del MANE Select	ENSP00000363708.4:n.853-23_853-22del
ENST00000638587.1:c.784-23_784-22del	ENSP00000491062.1:n.784-23_784-22del
ENST00000374574.2:c.853-23_853-22del	ENSP00000363702.2:n.853-23_853-22del
ENST00000374580.8:c.853-23_853-22del	ENSP00000363708.4:n.853-23_853-22del
NM_001204.6:c.853-23_853-22del , LRG_712t1:c.853-23_853-22del	NP_001195.2:n.853-23_853-22del
XM_011511687.1:c.853-23_853-22del	XP_011509989.1:n.853-23_853-22del
XM_011511688.1:c.853-23_853-22del	XP_011509990.1:n.853-23_853-22del
NM_001204.7:c.853-23_853-22del MANE Select	NP_001195.2:n.853-23_853-22del