Canonical Allele Identifier: CA350341878

Gene: BMPR2

Linked Data

• dbSNP Id: rs1247070046
• gnomAD v2: 2-203397396-T-C
• gnomAD v4: 2-202532673-T-C
• MyVariant Identifiers: chr2:g.203397396T>C (hg19) ; chr2:g.202532673T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532673T>C , CM000664.2:g.202532673T>C	GRCh38
NC_000002.11:g.203397396T>C , CM000664.1:g.203397396T>C	GRCh37
NC_000002.10:g.203105641T>C	NCBI36
NG_009363.1:g.161347T>C , LRG_712:g.161347T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1217T>C MANE Select	ENSP00000363708.4:p.Met406Thr
ENST00000638587.1:c.1148T>C	ENSP00000491062.1:p.Met383Thr
ENST00000374574.2:c.1217T>C	ENSP00000363702.2:p.Met406Thr
ENST00000374580.8:c.1217T>C	ENSP00000363708.4:p.Met406Thr
NM_001204.6:c.1217T>C , LRG_712t1:c.1217T>C	NP_001195.2:p.Met406Thr
XM_011511687.1:c.1217T>C	XP_011509989.1:p.Met406Thr
XM_011511688.1:c.1217T>C	XP_011509990.1:p.Met406Thr
NM_001204.7:c.1217T>C MANE Select	NP_001195.2:p.Met406Thr