Canonical Allele Identifier: CA2061117
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs748199273
ExAC: 2:203378404 T / TA
gnomAD v2: 2-203378404-T-TA
gnomAD v3: 2-202513681-T-TA
gnomAD v4: 2-202513681-T-TA
MyVariant Identifiers: chr2:g.203378405_203378406insA (hg19) chr2:g.203378404_203378405insA (hg19) chr2:g.202513682_202513683insA (hg38) chr2:g.202513681_202513682insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202513690dup , CM000664.2:g.202513690dup GRCh38
NC_000002.11:g.203378413dup , CM000664.1:g.203378413dup GRCh37
NC_000002.10:g.203086658dup NCBI36
NG_009363.1:g.142364dup , LRG_712:g.142364dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.419-29dup MANE Select ENSP00000363708.4:n.419-29dup
ENST00000638587.1:c.350-29dup ENSP00000491062.1:n.350-29dup
ENST00000374574.2:c.419-29dup ENSP00000363702.2:n.419-29dup
ENST00000374580.8:c.419-29dup ENSP00000363708.4:n.419-29dup
NM_001204.6:c.419-29dup , LRG_712t1:c.419-29dup NP_001195.2:n.419-29dup
XM_011511687.1:c.419-29dup XP_011509989.1:n.419-29dup
XM_011511688.1:c.419-29dup XP_011509990.1:n.419-29dup
NM_001204.7:c.419-29dup MANE Select NP_001195.2:n.419-29dup
Search 100 bp 5'
Search 100 bp 3'