Canonical Allele Identifier: CA357403152

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832631A>C (hg19) ; chr4:g.78911477A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911477A>C , CM000666.2:g.78911477A>C	GRCh38
NC_000004.11:g.79832631A>C , CM000666.1:g.79832631A>C	GRCh37
NC_000004.10:g.80051655A>C	NCBI36
NG_047162.1:g.140100A>C
NG_053104.1:g.32962T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2930A>C (BMP2K) MANE Select	ENSP00000424668.2:p.Lys977Thr
ENST00000335016.9:c.2930A>C (BMP2K)	ENSP00000334836.5:p.Lys977Thr
ENST00000342820.10:c.*782+3733T>G (PAQR3)	ENSP00000344203.6:n.*782+3733T>G
ENST00000502613.1:c.2007A>C (BMP2K)
ENST00000511594.5:c.*712T>G (PAQR3)	ENSP00000425080.1:n.*712T>G
ENST00000512760.5:c.*792+3733T>G (PAQR3)	ENSP00000426875.1:n.*792+3733T>G
ENST00000628286.1:c.*1906A>C (BMP2K)	ENSP00000487317.1:n.*1906A>C
NM_198892.1:c.2930A>C (BMP2K)	NP_942595.1:p.Lys977Thr
XM_005263117.1:c.2819A>C (BMP2K)	XP_005263174.1:p.Lys940Thr
XM_011532101.1:c.2690A>C (BMP2K)	XP_011530403.1:p.Lys897Thr
XR_938694.1:n.1118-5316T>G (PAQR3)
XM_017008381.1:c.2690A>C (BMP2K)	XP_016863870.1:p.Lys897Thr
XM_017008382.1:c.2042A>C (BMP2K)	XP_016863871.1:p.Lys681Thr
XR_938694.3:n.1098-5316T>G (PAQR3)
NM_198892.2:c.2930A>C (BMP2K) MANE Select	NP_942595.1:p.Lys977Thr