Canonical Allele Identifier: CA539387068

Gene: BMPR2

Linked Data

• dbSNP Id: rs1559063234
• gnomAD v2: 2-203384788-TCGC-T
• gnomAD v3: 2-202520065-TCGC-T
• gnomAD v4: 2-202520065-TCGC-T
• MyVariant Identifiers: chr2:g.203384789_203384792delinsA (hg19) ; chr2:g.202520066_202520069delinsA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520066_202520068del , CM000664.2:g.202520066_202520068del	GRCh38
NC_000002.11:g.203384789_203384791del , CM000664.1:g.203384789_203384791del	GRCh37
NC_000002.10:g.203093034_203093036del	NCBI36
NG_009363.1:g.148740_148742del , LRG_712:g.148740_148742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-21_853-19del MANE Select	ENSP00000363708.4:n.853-21_853-19del
ENST00000638587.1:c.784-21_784-19del	ENSP00000491062.1:n.784-21_784-19del
ENST00000374574.2:c.853-21_853-19del	ENSP00000363702.2:n.853-21_853-19del
ENST00000374580.8:c.853-21_853-19del	ENSP00000363708.4:n.853-21_853-19del
NM_001204.6:c.853-21_853-19del , LRG_712t1:c.853-21_853-19del	NP_001195.2:n.853-21_853-19del
XM_011511687.1:c.853-21_853-19del	XP_011509989.1:n.853-21_853-19del
XM_011511688.1:c.853-21_853-19del	XP_011509990.1:n.853-21_853-19del
NM_001204.7:c.853-21_853-19del MANE Select	NP_001195.2:n.853-21_853-19del