Canonical Allele Identifier: CA1041294142
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1692345122
gnomAD v3: 2-202467339-G-A
gnomAD v4: 2-202467339-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467339G>A , CM000664.2:g.202467339G>A GRCh38
NC_000002.11:g.203332062G>A , CM000664.1:g.203332062G>A GRCh37
NC_000002.10:g.203040307G>A NCBI36
NG_009363.1:g.96013G>A , LRG_712:g.96013G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.248-180G>A MANE Select ENSP00000363708.4:n.248-180G>A
ENST00000638587.1:c.179-180G>A ENSP00000491062.1:n.179-180G>A
ENST00000374574.2:c.248-180G>A ENSP00000363702.2:n.248-180G>A
ENST00000374580.8:c.248-180G>A ENSP00000363708.4:n.248-180G>A
ENST00000479069.1:n.155-180G>A
NM_001204.6:c.248-180G>A , LRG_712t1:c.248-180G>A NP_001195.2:n.248-180G>A
XM_011511687.1:c.248-180G>A XP_011509989.1:n.248-180G>A
XM_011511688.1:c.248-180G>A XP_011509990.1:n.248-180G>A
NM_001204.7:c.248-180G>A MANE Select NP_001195.2:n.248-180G>A
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