Canonical Allele Identifier: CA350340349
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383639A>T (hg19) chr2:g.202518916A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518916A>T , CM000664.2:g.202518916A>T GRCh38
NC_000002.11:g.203383639A>T , CM000664.1:g.203383639A>T GRCh37
NC_000002.10:g.203091884A>T NCBI36
NG_009363.1:g.147590A>T , LRG_712:g.147590A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.716A>T MANE Select ENSP00000363708.4:p.Asn239Ile
ENST00000638587.1:c.647A>T ENSP00000491062.1:p.Asn216Ile
ENST00000374574.2:c.716A>T ENSP00000363702.2:p.Asn239Ile
ENST00000374580.8:c.716A>T ENSP00000363708.4:p.Asn239Ile
NM_001204.6:c.716A>T , LRG_712t1:c.716A>T NP_001195.2:p.Asn239Ile
XM_011511687.1:c.716A>T XP_011509989.1:p.Asn239Ile
XM_011511688.1:c.716A>T XP_011509990.1:p.Asn239Ile
NM_001204.7:c.716A>T MANE Select NP_001195.2:p.Asn239Ile
Search 100 bp 5'
Search 100 bp 3'