Canonical Allele Identifier: CA430905529
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203420962G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556239G>T , CM000664.2:g.202556239G>T GRCh38
NC_000002.11:g.203420962G>T , CM000664.1:g.203420962G>T GRCh37
NC_000002.10:g.203129207G>T NCBI36
NG_009363.1:g.184913G>T , LRG_712:g.184913G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2574G>T MANE Select ENSP00000363708.4:p.Leu858=
ENST00000638587.1:c.2505G>T ENSP00000491062.1:n.2505G>T
ENST00000374574.2:c.1586+3351G>T ENSP00000363702.2:n.1586+3351G>T
ENST00000374580.8:c.2574G>T ENSP00000363708.4:p.Leu858=
NM_001204.6:c.2574G>T , LRG_712t1:c.2574G>T NP_001195.2:p.Leu858=
XM_011511687.1:c.2574G>T XP_011509989.1:p.Leu858=
XM_011511688.1:c.1586+3351G>T XP_011509990.1:n.1586+3351G>T
NM_001204.7:c.2574G>T MANE Select NP_001195.2:p.Leu858=