Canonical Allele Identifier: CA2060986
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs760123053
ExAC: 2:203242161 CT / C
gnomAD v2: 2-203242161-CT-C
gnomAD v3: 2-202377438-CT-C
gnomAD v4: 2-202377438-CT-C
MyVariant Identifiers: chr2:g.203242162del (hg19) chr2:g.202377440del (hg38) chr2:g.202377439del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377442del , CM000664.2:g.202377442del GRCh38
NC_000002.11:g.203242165del , CM000664.1:g.203242165del GRCh37
NC_000002.10:g.202950410del NCBI36
NG_009363.1:g.6116del , LRG_712:g.6116del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-33del MANE Select ENSP00000363708.4:n.-33del
ENST00000374574.2:c.-33del ENSP00000363702.2:n.-33del
ENST00000374580.8:c.-33del ENSP00000363708.4:n.-33del
NM_001204.6:c.-33del , LRG_712t1:c.-33del NP_001195.2:n.-33del
XM_011511687.1:c.-33del XP_011509989.1:n.-33del
XM_011511688.1:c.-33del XP_011509990.1:n.-33del
NM_001204.7:c.-33del MANE Select NP_001195.2:n.-33del
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