Canonical Allele Identifier: CA439976471

Gene: BMP2K

Linked Data

• dbSNP Id: rs1399175361
• gnomAD v3: 4-78865614-G-A
• gnomAD v4: 4-78865614-G-A
• COSMIC: COSM3606304 ; COSM3606305
• MyVariant Identifiers: chr4:g.79786768G>A (hg19) ; chr4:g.78865614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865614G>A , CM000666.2:g.78865614G>A	GRCh38
NC_000004.11:g.79786768G>A , CM000666.1:g.79786768G>A	GRCh37
NC_000004.10:g.80005792G>A	NCBI36
NG_047162.1:g.94237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1125G>A MANE Select	ENSP00000424668.2:p.Lys375=
ENST00000335016.9:c.1125G>A	ENSP00000334836.5:p.Lys375=
ENST00000389010.7:c.*101G>A	ENSP00000373662.3:n.*101G>A
ENST00000502613.1:c.202G>A
ENST00000502871.5:c.1125G>A	ENSP00000421768.1:p.Lys375=
ENST00000505725.1:n.407G>A
ENST00000628286.1:c.*101G>A	ENSP00000487317.1:n.*101G>A
NM_017593.3:c.1125G>A	NP_060063.2:p.Lys375=
NM_198892.1:c.1125G>A	NP_942595.1:p.Lys375=
XM_005263117.1:c.1125G>A	XP_005263174.1:p.Lys375=
XM_011532101.1:c.885G>A	XP_011530403.1:p.Lys295=
XM_011532102.1:c.1125G>A	XP_011530404.1:p.Lys375=
XM_017008381.1:c.885G>A	XP_016863870.1:p.Lys295=
XM_017008382.1:c.237G>A	XP_016863871.1:p.Lys79=
NM_017593.4:c.1125G>A	NP_060063.2:p.Lys375=
NM_017593.5:c.1125G>A	NP_060063.2:p.Lys375=
NM_198892.2:c.1125G>A MANE Select	NP_942595.1:p.Lys375=