Canonical Allele Identifier: CA2061214
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs778841768
ExAC: 2:203383770 C / T
gnomAD v2: 2-203383770-C-T
gnomAD v4: 2-202519047-C-T
MyVariant Identifiers: chr2:g.203383770C>T (hg19) chr2:g.202519047C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202519047C>T , CM000664.2:g.202519047C>T GRCh38
NC_000002.11:g.203383770C>T , CM000664.1:g.203383770C>T GRCh37
NC_000002.10:g.203092015C>T NCBI36
NG_009363.1:g.147721C>T , LRG_712:g.147721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.847C>T MANE Select ENSP00000363708.4:p.Pro283Ser
ENST00000638587.1:c.778C>T ENSP00000491062.1:p.Pro260Ser
ENST00000374574.2:c.847C>T ENSP00000363702.2:p.Pro283Ser
ENST00000374580.8:c.847C>T ENSP00000363708.4:p.Pro283Ser
NM_001204.6:c.847C>T , LRG_712t1:c.847C>T NP_001195.2:p.Pro283Ser
XM_011511687.1:c.847C>T XP_011509989.1:p.Pro283Ser
XM_011511688.1:c.847C>T XP_011509990.1:p.Pro283Ser
NM_001204.7:c.847C>T MANE Select NP_001195.2:p.Pro283Ser
Search 100 bp 5'
Search 100 bp 3'