Canonical Allele Identifier: CA350349732
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1688574286
gnomAD v4: 2-202556443-T-G
MyVariant Identifiers: chr2:g.203421166T>G (hg19) chr2:g.202556443T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202556443T>G , CM000664.2:g.202556443T>G GRCh38
NC_000002.11:g.203421166T>G , CM000664.1:g.203421166T>G GRCh37
NC_000002.10:g.203129411T>G NCBI36
NG_009363.1:g.185117T>G , LRG_712:g.185117T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.2778T>G MANE Select ENSP00000363708.4:p.Asp926Glu
ENST00000638587.1:c.2709T>G ENSP00000491062.1:n.2709T>G
ENST00000374574.2:c.1587-3253T>G ENSP00000363702.2:n.1587-3253T>G
ENST00000374580.8:c.2778T>G ENSP00000363708.4:p.Asp926Glu
NM_001204.6:c.2778T>G , LRG_712t1:c.2778T>G NP_001195.2:p.Asp926Glu
XM_011511687.1:c.2778T>G XP_011509989.1:p.Asp926Glu
XM_011511688.1:c.1587-3253T>G XP_011509990.1:n.1587-3253T>G
NM_001204.7:c.2778T>G MANE Select NP_001195.2:p.Asp926Glu
Search 100 bp 5'
Search 100 bp 3'