Canonical Allele Identifier: CA357404210

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs756584259
• gnomAD v4: 4-78911618-T-C
• MyVariant Identifiers: chr4:g.79832772T>C (hg19) ; chr4:g.78911618T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911618T>C , CM000666.2:g.78911618T>C	GRCh38
NC_000004.11:g.79832772T>C , CM000666.1:g.79832772T>C	GRCh37
NC_000004.10:g.80051796T>C	NCBI36
NG_047162.1:g.140241T>C
NG_053104.1:g.32821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3071T>C (BMP2K) MANE Select	ENSP00000424668.2:p.Val1024Ala
ENST00000335016.9:c.3071T>C (BMP2K)	ENSP00000334836.5:p.Val1024Ala
ENST00000342820.10:c.*782+3592A>G (PAQR3)	ENSP00000344203.6:n.*782+3592A>G
ENST00000502613.1:c.2148T>C (BMP2K)
ENST00000511594.5:c.*571A>G (PAQR3)	ENSP00000425080.1:n.*571A>G
ENST00000512760.5:c.*792+3592A>G (PAQR3)	ENSP00000426875.1:n.*792+3592A>G
ENST00000628286.1:c.*2047T>C (BMP2K)	ENSP00000487317.1:n.*2047T>C
NM_198892.1:c.3071T>C (BMP2K)	NP_942595.1:p.Val1024Ala
XM_005263117.1:c.2960T>C (BMP2K)	XP_005263174.1:p.Val987Ala
XM_011532101.1:c.2831T>C (BMP2K)	XP_011530403.1:p.Val944Ala
XR_938694.1:n.1118-5457A>G (PAQR3)
XM_017008381.1:c.2831T>C (BMP2K)	XP_016863870.1:p.Val944Ala
XM_017008382.1:c.2183T>C (BMP2K)	XP_016863871.1:p.Val728Ala
XR_938694.3:n.1098-5457A>G (PAQR3)
NM_198892.2:c.3071T>C (BMP2K) MANE Select	NP_942595.1:p.Val1024Ala