Canonical Allele Identifier: CA350340621
Gene: BMPR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.203383759T>G (hg19) chr2:g.202519036T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519036T>G , CM000664.2:g.202519036T>G GRCh38
NC_000002.11:g.203383759T>G , CM000664.1:g.203383759T>G GRCh37
NC_000002.10:g.203092004T>G NCBI36
NG_009363.1:g.147710T>G , LRG_712:g.147710T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.836T>G MANE Select ENSP00000363708.4:p.Met279Arg
ENST00000638587.1:c.767T>G ENSP00000491062.1:p.Met256Arg
ENST00000374574.2:c.836T>G ENSP00000363702.2:p.Met279Arg
ENST00000374580.8:c.836T>G ENSP00000363708.4:p.Met279Arg
NM_001204.6:c.836T>G , LRG_712t1:c.836T>G NP_001195.2:p.Met279Arg
XM_011511687.1:c.836T>G XP_011509989.1:p.Met279Arg
XM_011511688.1:c.836T>G XP_011509990.1:p.Met279Arg
NM_001204.7:c.836T>G MANE Select NP_001195.2:p.Met279Arg
Search 100 bp 5'
Search 100 bp 3'