Canonical Allele Identifier: CA357378442

Gene: BMP2K

Linked Data

• MyVariant Identifiers: chr4:g.79786731C>T (hg19) ; chr4:g.78865577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865577C>T , CM000666.2:g.78865577C>T	GRCh38
NC_000004.11:g.79786731C>T , CM000666.1:g.79786731C>T	GRCh37
NC_000004.10:g.80005755C>T	NCBI36
NG_047162.1:g.94200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1088C>T MANE Select	ENSP00000424668.2:p.Pro363Leu
ENST00000335016.9:c.1088C>T	ENSP00000334836.5:p.Pro363Leu
ENST00000389010.7:c.*64C>T	ENSP00000373662.3:n.*64C>T
ENST00000502613.1:c.165C>T
ENST00000502871.5:c.1088C>T	ENSP00000421768.1:p.Pro363Leu
ENST00000505725.1:n.370C>T
ENST00000628286.1:c.*64C>T	ENSP00000487317.1:n.*64C>T
NM_017593.3:c.1088C>T	NP_060063.2:p.Pro363Leu
NM_198892.1:c.1088C>T	NP_942595.1:p.Pro363Leu
XM_005263117.1:c.1088C>T	XP_005263174.1:p.Pro363Leu
XM_011532101.1:c.848C>T	XP_011530403.1:p.Pro283Leu
XM_011532102.1:c.1088C>T	XP_011530404.1:p.Pro363Leu
XM_017008381.1:c.848C>T	XP_016863870.1:p.Pro283Leu
XM_017008382.1:c.200C>T	XP_016863871.1:p.Pro67Leu
NM_017593.4:c.1088C>T	NP_060063.2:p.Pro363Leu
NM_017593.5:c.1088C>T	NP_060063.2:p.Pro363Leu
NM_198892.2:c.1088C>T MANE Select	NP_942595.1:p.Pro363Leu