Canonical Allele Identifier: CA408258778

Gene: BMP2

Linked Data

• gnomAD v4: 20-6778535-G-T
• MyVariant Identifiers: chr20:g.6759182G>T (hg19) ; chr20:g.6778535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6778535G>T , CM000682.2:g.6778535G>T	GRCh38
NC_000020.10:g.6759182G>T , CM000682.1:g.6759182G>T	GRCh37
NC_000020.9:g.6707182G>T	NCBI36
NG_023233.1:g.15438G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378827.5:c.637G>T MANE Select	ENSP00000368104.3:p.Val213Leu
ENST00000378827.4:c.637G>T	ENSP00000368104.3:p.Val213Leu
NM_001200.2:c.637G>T	NP_001191.1:p.Val213Leu
XM_011529323.1:c.169G>T	XP_011527625.1:p.Val57Leu
NM_001200.3:c.637G>T	NP_001191.1:p.Val213Leu
NM_001200.4:c.637G>T MANE Select	NP_001191.1:p.Val213Leu