Canonical Allele Identifier: CA64532175
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs561600960
gnomAD v2: 2-203329457-G-A
gnomAD v3: 2-202464734-G-A
gnomAD v4: 2-202464734-G-A
MyVariant Identifiers: chr2:g.203329457G>A (hg19) chr2:g.202464734G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464734G>A , CM000664.2:g.202464734G>A GRCh38
NC_000002.11:g.203329457G>A , CM000664.1:g.203329457G>A GRCh37
NC_000002.10:g.203037702G>A NCBI36
NG_009363.1:g.93408G>A , LRG_712:g.93408G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.77-75G>A MANE Select ENSP00000363708.4:n.77-75G>A
ENST00000374574.2:c.77-75G>A ENSP00000363702.2:n.77-75G>A
ENST00000374580.8:c.77-75G>A ENSP00000363708.4:n.77-75G>A
NM_001204.6:c.77-75G>A , LRG_712t1:c.77-75G>A NP_001195.2:n.77-75G>A
XM_011511687.1:c.77-75G>A XP_011509989.1:n.77-75G>A
XM_011511688.1:c.77-75G>A XP_011509990.1:n.77-75G>A
NM_001204.7:c.77-75G>A MANE Select NP_001195.2:n.77-75G>A
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