Canonical Allele Identifier: CA357404618

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs2110111346
• MyVariant Identifiers: chr4:g.79832865G>T (hg19) ; chr4:g.78911711G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911711G>T , CM000666.2:g.78911711G>T	GRCh38
NC_000004.11:g.79832865G>T , CM000666.1:g.79832865G>T	GRCh37
NC_000004.10:g.80051889G>T	NCBI36
NG_047162.1:g.140334G>T
NG_053104.1:g.32728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3164G>T (BMP2K) MANE Select	ENSP00000424668.2:p.Arg1055Met
ENST00000335016.9:c.3164G>T (BMP2K)	ENSP00000334836.5:p.Arg1055Met
ENST00000342820.10:c.*782+3499C>A (PAQR3)	ENSP00000344203.6:n.*782+3499C>A
ENST00000502613.1:c.2241G>T (BMP2K)
ENST00000511594.5:c.*478C>A (PAQR3)	ENSP00000425080.1:n.*478C>A
ENST00000512760.5:c.*792+3499C>A (PAQR3)	ENSP00000426875.1:n.*792+3499C>A
ENST00000628286.1:c.*2140G>T (BMP2K)	ENSP00000487317.1:n.*2140G>T
NM_198892.1:c.3164G>T (BMP2K)	NP_942595.1:p.Arg1055Met
XM_005263117.1:c.3053G>T (BMP2K)	XP_005263174.1:p.Arg1018Met
XM_011532101.1:c.2924G>T (BMP2K)	XP_011530403.1:p.Arg975Met
XR_938694.1:n.1118-5550C>A (PAQR3)
XM_017008381.1:c.2924G>T (BMP2K)	XP_016863870.1:p.Arg975Met
XM_017008382.1:c.2276G>T (BMP2K)	XP_016863871.1:p.Arg759Met
XR_938694.3:n.1098-5550C>A (PAQR3)
NM_198892.2:c.3164G>T (BMP2K) MANE Select	NP_942595.1:p.Arg1055Met