Canonical Allele Identifier: CA763419248

Gene: BMPR2

Linked Data

• dbSNP Id: rs1256607809
• gnomAD v3: 2-202377821-C-T
• gnomAD v4: 2-202377821-C-T
• MyVariant Identifiers: chr2:g.203242544C>T (hg19) ; chr2:g.202377821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377821C>T , CM000664.2:g.202377821C>T	GRCh38
NC_000002.11:g.203242544C>T , CM000664.1:g.203242544C>T	GRCh37
NC_000002.10:g.202950789C>T	NCBI36
NG_009363.1:g.6495C>T , LRG_712:g.6495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.76+271C>T MANE Select	ENSP00000363708.4:n.76+271C>T
ENST00000374574.2:c.76+271C>T	ENSP00000363702.2:n.76+271C>T
ENST00000374580.8:c.76+271C>T	ENSP00000363708.4:n.76+271C>T
NM_001204.6:c.76+271C>T , LRG_712t1:c.76+271C>T	NP_001195.2:n.76+271C>T
XM_011511687.1:c.76+271C>T	XP_011509989.1:n.76+271C>T
XM_011511688.1:c.76+271C>T	XP_011509990.1:n.76+271C>T
NM_001204.7:c.76+271C>T MANE Select	NP_001195.2:n.76+271C>T