Canonical Allele Identifier: CA430905203
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2737869
ClinVar RCV Id: RCV003596872
dbSNP Id: rs1393219982
MyVariant Identifiers: chr2:g.203420746T>C (hg19) chr2:g.202556023T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556023T>C , CM000664.2:g.202556023T>C GRCh38
NC_000002.11:g.203420746T>C , CM000664.1:g.203420746T>C GRCh37
NC_000002.10:g.203128991T>C NCBI36
NG_009363.1:g.184697T>C , LRG_712:g.184697T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2358T>C MANE Select ENSP00000363708.4:p.Thr786=
ENST00000638587.1:c.2289T>C ENSP00000491062.1:n.2289T>C
ENST00000374574.2:c.1586+3135T>C ENSP00000363702.2:n.1586+3135T>C
ENST00000374580.8:c.2358T>C ENSP00000363708.4:p.Thr786=
NM_001204.6:c.2358T>C , LRG_712t1:c.2358T>C NP_001195.2:p.Thr786=
XM_011511687.1:c.2358T>C XP_011509989.1:p.Thr786=
XM_011511688.1:c.1586+3135T>C XP_011509990.1:n.1586+3135T>C
NM_001204.7:c.2358T>C MANE Select NP_001195.2:p.Thr786=
Search 100 bp 5'
Search 100 bp 3'