Canonical Allele Identifier: CA357378591

Gene: BMP2K

Linked Data

• ClinVar Variation Id: 2245605
• ClinVar RCV Id: RCV004106253
• dbSNP Id: rs755914521
• gnomAD v4: 4-78865649-T-G
• MyVariant Identifiers: chr4:g.79786803T>G (hg19) ; chr4:g.78865649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865649T>G , CM000666.2:g.78865649T>G	GRCh38
NC_000004.11:g.79786803T>G , CM000666.1:g.79786803T>G	GRCh37
NC_000004.10:g.80005827T>G	NCBI36
NG_047162.1:g.94272T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1160T>G MANE Select	ENSP00000424668.2:p.Leu387Arg
ENST00000335016.9:c.1160T>G	ENSP00000334836.5:p.Leu387Arg
ENST00000389010.7:c.*136T>G	ENSP00000373662.3:n.*136T>G
ENST00000502613.1:c.237T>G
ENST00000502871.5:c.1160T>G	ENSP00000421768.1:p.Leu387Arg
ENST00000505725.1:n.442T>G
ENST00000628286.1:c.*136T>G	ENSP00000487317.1:n.*136T>G
NM_017593.3:c.1160T>G	NP_060063.2:p.Leu387Arg
NM_198892.1:c.1160T>G	NP_942595.1:p.Leu387Arg
XM_005263117.1:c.1160T>G	XP_005263174.1:p.Leu387Arg
XM_011532101.1:c.920T>G	XP_011530403.1:p.Leu307Arg
XM_011532102.1:c.1160T>G	XP_011530404.1:p.Leu387Arg
XM_017008381.1:c.920T>G	XP_016863870.1:p.Leu307Arg
XM_017008382.1:c.272T>G	XP_016863871.1:p.Leu91Arg
NM_017593.4:c.1160T>G	NP_060063.2:p.Leu387Arg
NM_017593.5:c.1160T>G	NP_060063.2:p.Leu387Arg
NM_198892.2:c.1160T>G MANE Select	NP_942595.1:p.Leu387Arg