Canonical Allele Identifier: CA2980213

Gene: BMP2K

Linked Data

• dbSNP Id: rs770279387
• ExAC: 4:79786845 C / T
• gnomAD v2: 4-79786845-C-T
• gnomAD v4: 4-78865691-C-T
• MyVariant Identifiers: chr4:g.79786845C>T (hg19) ; chr4:g.78865691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865691C>T , CM000666.2:g.78865691C>T	GRCh38
NC_000004.11:g.79786845C>T , CM000666.1:g.79786845C>T	GRCh37
NC_000004.10:g.80005869C>T	NCBI36
NG_047162.1:g.94314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1202C>T MANE Select	ENSP00000424668.2:p.Pro401Leu
ENST00000335016.9:c.1202C>T	ENSP00000334836.5:p.Pro401Leu
ENST00000389010.7:c.*178C>T	ENSP00000373662.3:n.*178C>T
ENST00000502613.1:c.279C>T
ENST00000502871.5:c.1202C>T	ENSP00000421768.1:p.Pro401Leu
ENST00000505725.1:n.484C>T
ENST00000628286.1:c.*178C>T	ENSP00000487317.1:n.*178C>T
NM_017593.3:c.1202C>T	NP_060063.2:p.Pro401Leu
NM_198892.1:c.1202C>T	NP_942595.1:p.Pro401Leu
XM_005263117.1:c.1202C>T	XP_005263174.1:p.Pro401Leu
XM_011532101.1:c.962C>T	XP_011530403.1:p.Pro321Leu
XM_011532102.1:c.1202C>T	XP_011530404.1:p.Pro401Leu
XM_017008381.1:c.962C>T	XP_016863870.1:p.Pro321Leu
XM_017008382.1:c.314C>T	XP_016863871.1:p.Pro105Leu
NM_017593.4:c.1202C>T	NP_060063.2:p.Pro401Leu
NM_017593.5:c.1202C>T	NP_060063.2:p.Pro401Leu
NM_198892.2:c.1202C>T MANE Select	NP_942595.1:p.Pro401Leu