Canonical Allele Identifier: CA357401871

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832463C>G (hg19) ; chr4:g.78911309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911309C>G , CM000666.2:g.78911309C>G	GRCh38
NC_000004.11:g.79832463C>G , CM000666.1:g.79832463C>G	GRCh37
NC_000004.10:g.80051487C>G	NCBI36
NG_047162.1:g.139932C>G
NG_053104.1:g.33130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2762C>G (BMP2K) MANE Select	ENSP00000424668.2:p.Thr921Ser
ENST00000335016.9:c.2762C>G (BMP2K)	ENSP00000334836.5:p.Thr921Ser
ENST00000342820.10:c.*782+3901G>C (PAQR3)	ENSP00000344203.6:n.*782+3901G>C
ENST00000502613.1:c.1839C>G (BMP2K)
ENST00000511594.5:c.*880G>C (PAQR3)	ENSP00000425080.1:n.*880G>C
ENST00000512760.5:c.*792+3901G>C (PAQR3)	ENSP00000426875.1:n.*792+3901G>C
ENST00000628286.1:c.*1738C>G (BMP2K)	ENSP00000487317.1:n.*1738C>G
NM_198892.1:c.2762C>G (BMP2K)	NP_942595.1:p.Thr921Ser
XM_005263117.1:c.2651C>G (BMP2K)	XP_005263174.1:p.Thr884Ser
XM_011532101.1:c.2522C>G (BMP2K)	XP_011530403.1:p.Thr841Ser
XR_938694.1:n.1118-5148G>C (PAQR3)
XM_017008381.1:c.2522C>G (BMP2K)	XP_016863870.1:p.Thr841Ser
XM_017008382.1:c.1874C>G (BMP2K)	XP_016863871.1:p.Thr625Ser
XR_938694.3:n.1098-5148G>C (PAQR3)
NM_198892.2:c.2762C>G (BMP2K) MANE Select	NP_942595.1:p.Thr921Ser