Canonical Allele Identifier: CA763421964

Gene: BMPR2

Linked Data

• dbSNP Id: rs1284255161
• MyVariant Identifiers: chr2:g.203336950G>A (hg19) ; chr2:g.202472227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202472227G>A , CM000664.2:g.202472227G>A	GRCh38
NC_000002.11:g.203336950G>A , CM000664.1:g.203336950G>A	GRCh37
NC_000002.10:g.203045195G>A	NCBI36
NG_009363.1:g.100901G>A , LRG_712:g.100901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.418+4538G>A MANE Select	ENSP00000363708.4:n.418+4538G>A
ENST00000638587.1:c.349+4538G>A	ENSP00000491062.1:n.349+4538G>A
ENST00000374574.2:c.418+4538G>A	ENSP00000363702.2:n.418+4538G>A
ENST00000374580.8:c.418+4538G>A	ENSP00000363708.4:n.418+4538G>A
ENST00000479069.1:n.326-2481G>A
NM_001204.6:c.418+4538G>A , LRG_712t1:c.418+4538G>A	NP_001195.2:n.418+4538G>A
XM_011511687.1:c.418+4538G>A	XP_011509989.1:n.418+4538G>A
XM_011511688.1:c.418+4538G>A	XP_011509990.1:n.418+4538G>A
NM_001204.7:c.418+4538G>A MANE Select	NP_001195.2:n.418+4538G>A