Canonical Allele Identifier: CA1321474483
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1690166295
gnomAD v4: 2-202377175-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377175G>A , CM000664.2:g.202377175G>A GRCh38
NC_000002.11:g.203241898G>A , CM000664.1:g.203241898G>A GRCh37
NC_000002.10:g.202950143G>A NCBI36
NG_009363.1:g.5849G>A , LRG_712:g.5849G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-300G>A MANE Select ENSP00000363708.4:n.-300G>A
ENST00000374580.8:c.-300G>A ENSP00000363708.4:n.-300G>A
NM_001204.6:c.-300G>A , LRG_712t1:c.-300G>A NP_001195.2:n.-300G>A
XM_011511687.1:c.-300G>A XP_011509989.1:n.-300G>A
XM_011511688.1:c.-300G>A XP_011509990.1:n.-300G>A
NM_001204.7:c.-300G>A MANE Select NP_001195.2:n.-300G>A
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