Canonical Allele Identifier: CA2060988
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs779617809
ExAC: 2:203242172 C / T
gnomAD v2: 2-203242172-C-T
gnomAD v3: 2-202377449-C-T
gnomAD v4: 2-202377449-C-T
MyVariant Identifiers: chr2:g.203242172C>T (hg19) chr2:g.202377449C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377449C>T , CM000664.2:g.202377449C>T GRCh38
NC_000002.11:g.203242172C>T , CM000664.1:g.203242172C>T GRCh37
NC_000002.10:g.202950417C>T NCBI36
NG_009363.1:g.6123C>T , LRG_712:g.6123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-26C>T MANE Select ENSP00000363708.4:n.-26C>T
ENST00000374574.2:c.-26C>T ENSP00000363702.2:n.-26C>T
ENST00000374580.8:c.-26C>T ENSP00000363708.4:n.-26C>T
NM_001204.6:c.-26C>T , LRG_712t1:c.-26C>T NP_001195.2:n.-26C>T
XM_011511687.1:c.-26C>T XP_011509989.1:n.-26C>T
XM_011511688.1:c.-26C>T XP_011509990.1:n.-26C>T
NM_001204.7:c.-26C>T MANE Select NP_001195.2:n.-26C>T
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