Canonical Allele Identifier: CA357378617

Gene: BMP2K

Linked Data

• MyVariant Identifiers: chr4:g.79786816T>G (hg19) ; chr4:g.78865662T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865662T>G , CM000666.2:g.78865662T>G	GRCh38
NC_000004.11:g.79786816T>G , CM000666.1:g.79786816T>G	GRCh37
NC_000004.10:g.80005840T>G	NCBI36
NG_047162.1:g.94285T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1173T>G MANE Select	ENSP00000424668.2:p.Ser391Arg
ENST00000335016.9:c.1173T>G	ENSP00000334836.5:p.Ser391Arg
ENST00000389010.7:c.*149T>G	ENSP00000373662.3:n.*149T>G
ENST00000502613.1:c.250T>G
ENST00000502871.5:c.1173T>G	ENSP00000421768.1:p.Ser391Arg
ENST00000505725.1:n.455T>G
ENST00000628286.1:c.*149T>G	ENSP00000487317.1:n.*149T>G
NM_017593.3:c.1173T>G	NP_060063.2:p.Ser391Arg
NM_198892.1:c.1173T>G	NP_942595.1:p.Ser391Arg
XM_005263117.1:c.1173T>G	XP_005263174.1:p.Ser391Arg
XM_011532101.1:c.933T>G	XP_011530403.1:p.Ser311Arg
XM_011532102.1:c.1173T>G	XP_011530404.1:p.Ser391Arg
XM_017008381.1:c.933T>G	XP_016863870.1:p.Ser311Arg
XM_017008382.1:c.285T>G	XP_016863871.1:p.Ser95Arg
NM_017593.4:c.1173T>G	NP_060063.2:p.Ser391Arg
NM_017593.5:c.1173T>G	NP_060063.2:p.Ser391Arg
NM_198892.2:c.1173T>G MANE Select	NP_942595.1:p.Ser391Arg