Canonical Allele Identifier: CA408258686
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6759141A>T (hg19) chr20:g.6778494A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778494A>T , CM000682.2:g.6778494A>T GRCh38
NC_000020.10:g.6759141A>T , CM000682.1:g.6759141A>T GRCh37
NC_000020.9:g.6707141A>T NCBI36
NG_023233.1:g.15397A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378827.5:c.596A>T MANE Select ENSP00000368104.3:p.Gln199Leu
ENST00000378827.4:c.596A>T ENSP00000368104.3:p.Gln199Leu
NM_001200.2:c.596A>T NP_001191.1:p.Gln199Leu
XM_011529323.1:c.128A>T XP_011527625.1:p.Gln43Leu
NM_001200.3:c.596A>T NP_001191.1:p.Gln199Leu
NM_001200.4:c.596A>T MANE Select NP_001191.1:p.Gln199Leu
Search 100 bp 5'
Search 100 bp 3'