Canonical Allele Identifier: CA2061105

Gene: BMPR2

Linked Data

• dbSNP Id: rs533667407
• ExAC: 2:203332450 C / T
• gnomAD v2: 2-203332450-C-T
• gnomAD v3: 2-202467727-C-T
• gnomAD v4: 2-202467727-C-T
• MyVariant Identifiers: chr2:g.203332450C>T (hg19) ; chr2:g.202467727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202467727C>T , CM000664.2:g.202467727C>T	GRCh38
NC_000002.11:g.203332450C>T , CM000664.1:g.203332450C>T	GRCh37
NC_000002.10:g.203040695C>T	NCBI36
NG_009363.1:g.96401C>T , LRG_712:g.96401C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.418+38C>T MANE Select	ENSP00000363708.4:n.418+38C>T
ENST00000638587.1:c.349+38C>T	ENSP00000491062.1:n.349+38C>T
ENST00000374574.2:c.418+38C>T	ENSP00000363702.2:n.418+38C>T
ENST00000374580.8:c.418+38C>T	ENSP00000363708.4:n.418+38C>T
ENST00000479069.1:n.325+38C>T
NM_001204.6:c.418+38C>T , LRG_712t1:c.418+38C>T	NP_001195.2:n.418+38C>T
XM_011511687.1:c.418+38C>T	XP_011509989.1:n.418+38C>T
XM_011511688.1:c.418+38C>T	XP_011509990.1:n.418+38C>T
NM_001204.7:c.418+38C>T MANE Select	NP_001195.2:n.418+38C>T