Canonical Allele Identifier: CA100003231

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs753777587
• gnomAD v3: 4-78911303-C-T
• gnomAD v4: 4-78911303-C-T
• MyVariant Identifiers: chr4:g.79832457C>T (hg19) ; chr4:g.78911303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911303C>T , CM000666.2:g.78911303C>T	GRCh38
NC_000004.11:g.79832457C>T , CM000666.1:g.79832457C>T	GRCh37
NC_000004.10:g.80051481C>T	NCBI36
NG_047162.1:g.139926C>T
NG_053104.1:g.33136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2756C>T (BMP2K) MANE Select	ENSP00000424668.2:p.Ala919Val
ENST00000335016.9:c.2756C>T (BMP2K)	ENSP00000334836.5:p.Ala919Val
ENST00000342820.10:c.*782+3907G>A (PAQR3)	ENSP00000344203.6:n.*782+3907G>A
ENST00000502613.1:c.1833C>T (BMP2K)
ENST00000511594.5:c.*886G>A (PAQR3)	ENSP00000425080.1:n.*886G>A
ENST00000512760.5:c.*792+3907G>A (PAQR3)	ENSP00000426875.1:n.*792+3907G>A
ENST00000628286.1:c.*1732C>T (BMP2K)	ENSP00000487317.1:n.*1732C>T
NM_198892.1:c.2756C>T (BMP2K)	NP_942595.1:p.Ala919Val
XM_005263117.1:c.2645C>T (BMP2K)	XP_005263174.1:p.Ala882Val
XM_011532101.1:c.2516C>T (BMP2K)	XP_011530403.1:p.Ala839Val
XR_938694.1:n.1118-5142G>A (PAQR3)
XM_017008381.1:c.2516C>T (BMP2K)	XP_016863870.1:p.Ala839Val
XM_017008382.1:c.1868C>T (BMP2K)	XP_016863871.1:p.Ala623Val
XR_938694.3:n.1098-5142G>A (PAQR3)
NM_198892.2:c.2756C>T (BMP2K) MANE Select	NP_942595.1:p.Ala919Val