Canonical Allele Identifier: CA763418189
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1334852292
gnomAD v3: 2-202376473-C-G
gnomAD v4: 2-202376473-C-G
MyVariant Identifiers: chr2:g.203241196C>G (hg19) chr2:g.202376473C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202376473C>G , CM000664.2:g.202376473C>G GRCh38
NC_000002.11:g.203241196C>G , CM000664.1:g.203241196C>G GRCh37
NC_000002.10:g.202949441C>G NCBI36
NG_009363.1:g.5147C>G , LRG_712:g.5147C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.-1002C>G MANE Select ENSP00000363708.4:n.-1002C>G
NM_001204.6:c.-1002C>G , LRG_712t1:c.-1002C>G NP_001195.2:n.-1002C>G
XM_011511687.1:c.-1002C>G XP_011509989.1:n.-1002C>G
XM_011511688.1:c.-1002C>G XP_011509990.1:n.-1002C>G
NM_001204.7:c.-1002C>G MANE Select NP_001195.2:n.-1002C>G
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