Canonical Allele Identifier: CA2980206

Gene: BMP2K

Linked Data

• dbSNP Id: rs138988388
• ExAC: 4:79786805 A / C
• gnomAD v2: 4-79786805-A-C
• gnomAD v3: 4-78865651-A-C
• gnomAD v4: 4-78865651-A-C
• MyVariant Identifiers: chr4:g.79786805A>C (hg19) ; chr4:g.78865651A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865651A>C , CM000666.2:g.78865651A>C	GRCh38
NC_000004.11:g.79786805A>C , CM000666.1:g.79786805A>C	GRCh37
NC_000004.10:g.80005829A>C	NCBI36
NG_047162.1:g.94274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1162A>C MANE Select	ENSP00000424668.2:p.Thr388Pro
ENST00000335016.9:c.1162A>C	ENSP00000334836.5:p.Thr388Pro
ENST00000389010.7:c.*138A>C	ENSP00000373662.3:n.*138A>C
ENST00000502613.1:c.239A>C
ENST00000502871.5:c.1162A>C	ENSP00000421768.1:p.Thr388Pro
ENST00000505725.1:n.444A>C
ENST00000628286.1:c.*138A>C	ENSP00000487317.1:n.*138A>C
NM_017593.3:c.1162A>C	NP_060063.2:p.Thr388Pro
NM_198892.1:c.1162A>C	NP_942595.1:p.Thr388Pro
XM_005263117.1:c.1162A>C	XP_005263174.1:p.Thr388Pro
XM_011532101.1:c.922A>C	XP_011530403.1:p.Thr308Pro
XM_011532102.1:c.1162A>C	XP_011530404.1:p.Thr388Pro
XM_017008381.1:c.922A>C	XP_016863870.1:p.Thr308Pro
XM_017008382.1:c.274A>C	XP_016863871.1:p.Thr92Pro
NM_017593.4:c.1162A>C	NP_060063.2:p.Thr388Pro
NM_017593.5:c.1162A>C	NP_060063.2:p.Thr388Pro
NM_198892.2:c.1162A>C MANE Select	NP_942595.1:p.Thr388Pro