Canonical Allele Identifier: CA538975720

Gene: BMPR2

Linked Data

• dbSNP Id: rs1488591112
• gnomAD v2: 2-203397487-T-TA
• MyVariant Identifiers: chr2:g.203397487_203397488insA (hg19) ; chr2:g.202532764_202532765insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532764_202532765insA , CM000664.2:g.202532764_202532765insA	GRCh38
NC_000002.11:g.203397487_203397488insA , CM000664.1:g.203397487_203397488insA	GRCh37
NC_000002.10:g.203105732_203105733insA	NCBI36
NG_009363.1:g.161438_161439insA , LRG_712:g.161438_161439insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+32_1276+33insA MANE Select	ENSP00000363708.4:n.1276+32_1276+33insA
ENST00000638587.1:c.1207+32_1207+33insA	ENSP00000491062.1:n.1207+32_1207+33insA
ENST00000374574.2:c.1276+32_1276+33insA	ENSP00000363702.2:n.1276+32_1276+33insA
ENST00000374580.8:c.1276+32_1276+33insA	ENSP00000363708.4:n.1276+32_1276+33insA
NM_001204.6:c.1276+32_1276+33insA , LRG_712t1:c.1276+32_1276+33insA	NP_001195.2:n.1276+32_1276+33insA
XM_011511687.1:c.1276+32_1276+33insA	XP_011509989.1:n.1276+32_1276+33insA
XM_011511688.1:c.1276+32_1276+33insA	XP_011509990.1:n.1276+32_1276+33insA
NM_001204.7:c.1276+32_1276+33insA MANE Select	NP_001195.2:n.1276+32_1276+33insA