Canonical Allele Identifier: CA2061464

Gene: BMPR2

Linked Data

• dbSNP Id: rs764861233
• ExAC: 2:203420253 C / T
• gnomAD v2: 2-203420253-C-T
• gnomAD v4: 2-202555530-C-T
• MyVariant Identifiers: chr2:g.203420253C>T (hg19) ; chr2:g.202555530C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555530C>T , CM000664.2:g.202555530C>T	GRCh38
NC_000002.11:g.203420253C>T , CM000664.1:g.203420253C>T	GRCh37
NC_000002.10:g.203128498C>T	NCBI36
NG_009363.1:g.184204C>T , LRG_712:g.184204C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1865C>T MANE Select	ENSP00000363708.4:p.Pro622Leu
ENST00000638587.1:c.1796C>T	ENSP00000491062.1:n.1796C>T
ENST00000374574.2:c.1586+2642C>T	ENSP00000363702.2:n.1586+2642C>T
ENST00000374580.8:c.1865C>T	ENSP00000363708.4:p.Pro622Leu
NM_001204.6:c.1865C>T , LRG_712t1:c.1865C>T	NP_001195.2:p.Pro622Leu
XM_011511687.1:c.1865C>T	XP_011509989.1:p.Pro622Leu
XM_011511688.1:c.1586+2642C>T	XP_011509990.1:n.1586+2642C>T
NM_001204.7:c.1865C>T MANE Select	NP_001195.2:p.Pro622Leu