Canonical Allele Identifier: CA1321540308

Gene: BMPR2

Linked Data

• dbSNP Id: rs1687798698
• gnomAD v4: 2-202520302-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520302T>G , CM000664.2:g.202520302T>G	GRCh38
NC_000002.11:g.203385025T>G , CM000664.1:g.203385025T>G	GRCh37
NC_000002.10:g.203093270T>G	NCBI36
NG_009363.1:g.148976T>G , LRG_712:g.148976T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.967+101T>G MANE Select	ENSP00000363708.4:n.967+101T>G
ENST00000638587.1:c.898+101T>G	ENSP00000491062.1:n.898+101T>G
ENST00000374574.2:c.967+101T>G	ENSP00000363702.2:n.967+101T>G
ENST00000374580.8:c.967+101T>G	ENSP00000363708.4:n.967+101T>G
NM_001204.6:c.967+101T>G , LRG_712t1:c.967+101T>G	NP_001195.2:n.967+101T>G
XM_011511687.1:c.967+101T>G	XP_011509989.1:n.967+101T>G
XM_011511688.1:c.967+101T>G	XP_011509990.1:n.967+101T>G
NM_001204.7:c.967+101T>G MANE Select	NP_001195.2:n.967+101T>G