Canonical Allele Identifier: CA350349123
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203421014C>A (hg19) chr2:g.202556291C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556291C>A , CM000664.2:g.202556291C>A GRCh38
NC_000002.11:g.203421014C>A , CM000664.1:g.203421014C>A GRCh37
NC_000002.10:g.203129259C>A NCBI36
NG_009363.1:g.184965C>A , LRG_712:g.184965C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.2626C>A MANE Select ENSP00000363708.4:p.Gln876Lys
ENST00000638587.1:c.2557C>A ENSP00000491062.1:n.2557C>A
ENST00000374574.2:c.1586+3403C>A ENSP00000363702.2:n.1586+3403C>A
ENST00000374580.8:c.2626C>A ENSP00000363708.4:p.Gln876Lys
NM_001204.6:c.2626C>A , LRG_712t1:c.2626C>A NP_001195.2:p.Gln876Lys
XM_011511687.1:c.2626C>A XP_011509989.1:p.Gln876Lys
XM_011511688.1:c.1586+3403C>A XP_011509990.1:n.1586+3403C>A
NM_001204.7:c.2626C>A MANE Select NP_001195.2:p.Gln876Lys
Search 100 bp 5'
Search 100 bp 3'