Canonical Allele Identifier: CA439976705

Gene: BMP2K

Linked Data

• dbSNP Id: rs749741547
• gnomAD v2: 4-79786855-C-T
• gnomAD v3: 4-78865701-C-T
• gnomAD v4: 4-78865701-C-T
• MyVariant Identifiers: chr4:g.79786855C>T (hg19) ; chr4:g.78865701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865701C>T , CM000666.2:g.78865701C>T	GRCh38
NC_000004.11:g.79786855C>T , CM000666.1:g.79786855C>T	GRCh37
NC_000004.10:g.80005879C>T	NCBI36
NG_047162.1:g.94324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1212C>T MANE Select	ENSP00000424668.2:p.Phe404=
ENST00000335016.9:c.1212C>T	ENSP00000334836.5:p.Phe404=
ENST00000389010.7:c.*188C>T	ENSP00000373662.3:n.*188C>T
ENST00000502613.1:c.289C>T
ENST00000502871.5:c.1212C>T	ENSP00000421768.1:p.Phe404=
ENST00000505725.1:n.494C>T
ENST00000628286.1:c.*188C>T	ENSP00000487317.1:n.*188C>T
NM_017593.3:c.1212C>T	NP_060063.2:p.Phe404=
NM_198892.1:c.1212C>T	NP_942595.1:p.Phe404=
XM_005263117.1:c.1212C>T	XP_005263174.1:p.Phe404=
XM_011532101.1:c.972C>T	XP_011530403.1:p.Phe324=
XM_011532102.1:c.1212C>T	XP_011530404.1:p.Phe404=
XM_017008381.1:c.972C>T	XP_016863870.1:p.Phe324=
XM_017008382.1:c.324C>T	XP_016863871.1:p.Phe108=
NM_017593.4:c.1212C>T	NP_060063.2:p.Phe404=
NM_017593.5:c.1212C>T	NP_060063.2:p.Phe404=
NM_198892.2:c.1212C>T MANE Select	NP_942595.1:p.Phe404=