Canonical Allele Identifier: CA357402107

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1734585982
• MyVariant Identifiers: chr4:g.79832492G>T (hg19) ; chr4:g.78911338G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911338G>T , CM000666.2:g.78911338G>T	GRCh38
NC_000004.11:g.79832492G>T , CM000666.1:g.79832492G>T	GRCh37
NC_000004.10:g.80051516G>T	NCBI36
NG_047162.1:g.139961G>T
NG_053104.1:g.33101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2791G>T (BMP2K) MANE Select	ENSP00000424668.2:p.Val931Leu
ENST00000335016.9:c.2791G>T (BMP2K)	ENSP00000334836.5:p.Val931Leu
ENST00000342820.10:c.*782+3872C>A (PAQR3)	ENSP00000344203.6:n.*782+3872C>A
ENST00000502613.1:c.1868G>T (BMP2K)
ENST00000511594.5:c.*851C>A (PAQR3)	ENSP00000425080.1:n.*851C>A
ENST00000512760.5:c.*792+3872C>A (PAQR3)	ENSP00000426875.1:n.*792+3872C>A
ENST00000628286.1:c.*1767G>T (BMP2K)	ENSP00000487317.1:n.*1767G>T
NM_198892.1:c.2791G>T (BMP2K)	NP_942595.1:p.Val931Leu
XM_005263117.1:c.2680G>T (BMP2K)	XP_005263174.1:p.Val894Leu
XM_011532101.1:c.2551G>T (BMP2K)	XP_011530403.1:p.Val851Leu
XR_938694.1:n.1118-5177C>A (PAQR3)
XM_017008381.1:c.2551G>T (BMP2K)	XP_016863870.1:p.Val851Leu
XM_017008382.1:c.1903G>T (BMP2K)	XP_016863871.1:p.Val635Leu
XR_938694.3:n.1098-5177C>A (PAQR3)
NM_198892.2:c.2791G>T (BMP2K) MANE Select	NP_942595.1:p.Val931Leu