Canonical Allele Identifier: CA2980212
Gene: BMP2K HGNC NCBI

Linked Data

dbSNP Id: rs746718262
gnomAD v2: 4-79786844-C-T
gnomAD v4: 4-78865690-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78865690C>T , CM000666.2:g.78865690C>T GRCh38
NC_000004.11:g.79786844C>T , CM000666.1:g.79786844C>T GRCh37
NC_000004.10:g.80005868C>T NCBI36
NG_047162.1:g.94313C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.1201C>T MANE Select ENSP00000424668.2:p.Pro401Ser
ENST00000335016.9:c.1201C>T ENSP00000334836.5:p.Pro401Ser
ENST00000389010.7:c.*177C>T ENSP00000373662.3:n.*177C>T
ENST00000502613.1:c.278C>T
ENST00000502871.5:c.1201C>T ENSP00000421768.1:p.Pro401Ser
ENST00000505725.1:n.483C>T
ENST00000628286.1:c.*177C>T ENSP00000487317.1:n.*177C>T
NM_017593.3:c.1201C>T NP_060063.2:p.Pro401Ser
NM_198892.1:c.1201C>T NP_942595.1:p.Pro401Ser
XM_005263117.1:c.1201C>T XP_005263174.1:p.Pro401Ser
XM_011532101.1:c.961C>T XP_011530403.1:p.Pro321Ser
XM_011532102.1:c.1201C>T XP_011530404.1:p.Pro401Ser
XM_017008381.1:c.961C>T XP_016863870.1:p.Pro321Ser
XM_017008382.1:c.313C>T XP_016863871.1:p.Pro105Ser
NM_017593.4:c.1201C>T NP_060063.2:p.Pro401Ser
NM_017593.5:c.1201C>T NP_060063.2:p.Pro401Ser
NM_198892.2:c.1201C>T MANE Select NP_942595.1:p.Pro401Ser