Canonical Allele Identifier: CA408258772
Gene: BMP2 HGNC NCBI

Linked Data

dbSNP Id: rs377749107
gnomAD v4: 20-6778532-G-T
MyVariant Identifiers: chr20:g.6759179G>T (hg19) chr20:g.6778532G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6778532G>T , CM000682.2:g.6778532G>T GRCh38
NC_000020.10:g.6759179G>T , CM000682.1:g.6759179G>T GRCh37
NC_000020.9:g.6707179G>T NCBI36
NG_023233.1:g.15435G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378827.5:c.634G>T MANE Select ENSP00000368104.3:p.Ala212Ser
ENST00000378827.4:c.634G>T ENSP00000368104.3:p.Ala212Ser
NM_001200.2:c.634G>T NP_001191.1:p.Ala212Ser
XM_011529323.1:c.166G>T XP_011527625.1:p.Ala56Ser
NM_001200.3:c.634G>T NP_001191.1:p.Ala212Ser
NM_001200.4:c.634G>T MANE Select NP_001191.1:p.Ala212Ser
Search 100 bp 5'
Search 100 bp 3'