Canonical Allele Identifier: CA357378662

Gene: BMP2K

Linked Data

• gnomAD v4: 4-78865684-C-G
• MyVariant Identifiers: chr4:g.79786838C>G (hg19) ; chr4:g.78865684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865684C>G , CM000666.2:g.78865684C>G	GRCh38
NC_000004.11:g.79786838C>G , CM000666.1:g.79786838C>G	GRCh37
NC_000004.10:g.80005862C>G	NCBI36
NG_047162.1:g.94307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1195C>G MANE Select	ENSP00000424668.2:p.Leu399Val
ENST00000335016.9:c.1195C>G	ENSP00000334836.5:p.Leu399Val
ENST00000389010.7:c.*171C>G	ENSP00000373662.3:n.*171C>G
ENST00000502613.1:c.272C>G
ENST00000502871.5:c.1195C>G	ENSP00000421768.1:p.Leu399Val
ENST00000505725.1:n.477C>G
ENST00000628286.1:c.*171C>G	ENSP00000487317.1:n.*171C>G
NM_017593.3:c.1195C>G	NP_060063.2:p.Leu399Val
NM_198892.1:c.1195C>G	NP_942595.1:p.Leu399Val
XM_005263117.1:c.1195C>G	XP_005263174.1:p.Leu399Val
XM_011532101.1:c.955C>G	XP_011530403.1:p.Leu319Val
XM_011532102.1:c.1195C>G	XP_011530404.1:p.Leu399Val
XM_017008381.1:c.955C>G	XP_016863870.1:p.Leu319Val
XM_017008382.1:c.307C>G	XP_016863871.1:p.Leu103Val
NM_017593.4:c.1195C>G	NP_060063.2:p.Leu399Val
NM_017593.5:c.1195C>G	NP_060063.2:p.Leu399Val
NM_198892.2:c.1195C>G MANE Select	NP_942595.1:p.Leu399Val