Canonical Allele Identifier: CA763418919
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1268877041
gnomAD v3: 2-202377413-C-A
gnomAD v4: 2-202377413-C-A
MyVariant Identifiers: chr2:g.203242136C>A (hg19) chr2:g.202377413C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377413C>A , CM000664.2:g.202377413C>A GRCh38
NC_000002.11:g.203242136C>A , CM000664.1:g.203242136C>A GRCh37
NC_000002.10:g.202950381C>A NCBI36
NG_009363.1:g.6087C>A , LRG_712:g.6087C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-62C>A MANE Select ENSP00000363708.4:n.-62C>A
ENST00000374580.8:c.-62C>A ENSP00000363708.4:n.-62C>A
NM_001204.6:c.-62C>A , LRG_712t1:c.-62C>A NP_001195.2:n.-62C>A
XM_011511687.1:c.-62C>A XP_011509989.1:n.-62C>A
XM_011511688.1:c.-62C>A XP_011509990.1:n.-62C>A
NM_001204.7:c.-62C>A MANE Select NP_001195.2:n.-62C>A
Search 100 bp 5'
Search 100 bp 3'