Canonical Allele Identifier: CA350396677

Gene: BMPR2

Linked Data

• dbSNP Id: rs1432200219
• gnomAD v2: 2-203242241-C-T
• gnomAD v4: 2-202377518-C-T
• MyVariant Identifiers: chr2:g.203242241C>T (hg19) ; chr2:g.202377518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377518C>T , CM000664.2:g.202377518C>T	GRCh38
NC_000002.11:g.203242241C>T , CM000664.1:g.203242241C>T	GRCh37
NC_000002.10:g.202950486C>T	NCBI36
NG_009363.1:g.6192C>T , LRG_712:g.6192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.44C>T MANE Select	ENSP00000363708.4:p.Pro15Leu
ENST00000374574.2:c.44C>T	ENSP00000363702.2:p.Pro15Leu
ENST00000374580.8:c.44C>T	ENSP00000363708.4:p.Pro15Leu
NM_001204.6:c.44C>T , LRG_712t1:c.44C>T	NP_001195.2:p.Pro15Leu
XM_011511687.1:c.44C>T	XP_011509989.1:p.Pro15Leu
XM_011511688.1:c.44C>T	XP_011509990.1:p.Pro15Leu
NM_001204.7:c.44C>T MANE Select	NP_001195.2:p.Pro15Leu