Canonical Allele Identifier: CA2060989
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs201940669
ExAC: 2:203242178 G / A
gnomAD v2: 2-203242178-G-A
gnomAD v4: 2-202377455-G-A
MyVariant Identifiers: chr2:g.203242178G>A (hg19) chr2:g.202377455G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377455G>A , CM000664.2:g.202377455G>A GRCh38
NC_000002.11:g.203242178G>A , CM000664.1:g.203242178G>A GRCh37
NC_000002.10:g.202950423G>A NCBI36
NG_009363.1:g.6129G>A , LRG_712:g.6129G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-20G>A MANE Select ENSP00000363708.4:n.-20G>A
ENST00000374574.2:c.-20G>A ENSP00000363702.2:n.-20G>A
ENST00000374580.8:c.-20G>A ENSP00000363708.4:n.-20G>A
NM_001204.6:c.-20G>A , LRG_712t1:c.-20G>A NP_001195.2:n.-20G>A
XM_011511687.1:c.-20G>A XP_011509989.1:n.-20G>A
XM_011511688.1:c.-20G>A XP_011509990.1:n.-20G>A
NM_001204.7:c.-20G>A MANE Select NP_001195.2:n.-20G>A
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