Canonical Allele Identifier: CA763427054

Gene: BMPR2

Linked Data

• dbSNP Id: rs1465682585
• gnomAD v4: 2-202519936-CTCTT-C
• MyVariant Identifiers: chr2:g.203384660_203384663del (hg19) ; chr2:g.202519937_202519940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202519939_202519942del , CM000664.2:g.202519939_202519942del	GRCh38
NC_000002.11:g.203384662_203384665del , CM000664.1:g.203384662_203384665del	GRCh37
NC_000002.10:g.203092907_203092910del	NCBI36
NG_009363.1:g.148613_148616del , LRG_712:g.148613_148616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.853-148_853-145del MANE Select	ENSP00000363708.4:n.853-148_853-145del
ENST00000638587.1:c.784-148_784-145del	ENSP00000491062.1:n.784-148_784-145del
ENST00000374574.2:c.853-148_853-145del	ENSP00000363702.2:n.853-148_853-145del
ENST00000374580.8:c.853-148_853-145del	ENSP00000363708.4:n.853-148_853-145del
NM_001204.6:c.853-148_853-145del , LRG_712t1:c.853-148_853-145del	NP_001195.2:n.853-148_853-145del
XM_011511687.1:c.853-148_853-145del	XP_011509989.1:n.853-148_853-145del
XM_011511688.1:c.853-148_853-145del	XP_011509990.1:n.853-148_853-145del
NM_001204.7:c.853-148_853-145del MANE Select	NP_001195.2:n.853-148_853-145del