Canonical Allele Identifier: CA408260368
Gene: BMP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6750937T>C (hg19) chr20:g.6770290T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6770290T>C , CM000682.2:g.6770290T>C GRCh38
NC_000020.10:g.6750937T>C , CM000682.1:g.6750937T>C GRCh37
NC_000020.9:g.6698937T>C NCBI36
NG_023233.1:g.7193T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.164T>C MANE Select ENSP00000368104.3:p.Leu55Ser
ENST00000378827.4:c.164T>C ENSP00000368104.3:p.Leu55Ser
NM_001200.2:c.164T>C NP_001191.1:p.Leu55Ser
XM_011529323.1:c.-123+1415T>C XP_011527625.1:n.-123+1415T>C
NM_001200.3:c.164T>C NP_001191.1:p.Leu55Ser
NM_001200.4:c.164T>C MANE Select NP_001191.1:p.Leu55Ser
Search 100 bp 5'
Search 100 bp 3'