Canonical Allele Identifier: CA430905407

Gene: BMPR2

Linked Data

• dbSNP Id: rs1688565222
• gnomAD v4: 2-202556065-T-C
• MyVariant Identifiers: chr2:g.203420788T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556065T>C , CM000664.2:g.202556065T>C	GRCh38
NC_000002.11:g.203420788T>C , CM000664.1:g.203420788T>C	GRCh37
NC_000002.10:g.203129033T>C	NCBI36
NG_009363.1:g.184739T>C , LRG_712:g.184739T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2400T>C MANE Select	ENSP00000363708.4:p.His800=
ENST00000638587.1:c.2331T>C	ENSP00000491062.1:n.2331T>C
ENST00000374574.2:c.1586+3177T>C	ENSP00000363702.2:n.1586+3177T>C
ENST00000374580.8:c.2400T>C	ENSP00000363708.4:p.His800=
NM_001204.6:c.2400T>C , LRG_712t1:c.2400T>C	NP_001195.2:p.His800=
XM_011511687.1:c.2400T>C	XP_011509989.1:p.His800=
XM_011511688.1:c.1586+3177T>C	XP_011509990.1:n.1586+3177T>C
NM_001204.7:c.2400T>C MANE Select	NP_001195.2:p.His800=