Canonical Allele Identifier: CA440226369

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832884T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911730T>C , CM000666.2:g.78911730T>C	GRCh38
NC_000004.11:g.79832884T>C , CM000666.1:g.79832884T>C	GRCh37
NC_000004.10:g.80051908T>C	NCBI36
NG_047162.1:g.140353T>C
NG_053104.1:g.32709A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3183T>C (BMP2K) MANE Select	ENSP00000424668.2:p.Pro1061=
ENST00000335016.9:c.3183T>C (BMP2K)	ENSP00000334836.5:p.Pro1061=
ENST00000342820.10:c.*782+3480A>G (PAQR3)	ENSP00000344203.6:n.*782+3480A>G
ENST00000502613.1:c.2260T>C (BMP2K)
ENST00000511594.5:c.*459A>G (PAQR3)	ENSP00000425080.1:n.*459A>G
ENST00000512760.5:c.*792+3480A>G (PAQR3)	ENSP00000426875.1:n.*792+3480A>G
ENST00000628286.1:c.*2159T>C (BMP2K)	ENSP00000487317.1:n.*2159T>C
NM_198892.1:c.3183T>C (BMP2K)	NP_942595.1:p.Pro1061=
XM_005263117.1:c.3072T>C (BMP2K)	XP_005263174.1:p.Pro1024=
XM_011532101.1:c.2943T>C (BMP2K)	XP_011530403.1:p.Pro981=
XR_938694.1:n.1118-5569A>G (PAQR3)
XM_017008381.1:c.2943T>C (BMP2K)	XP_016863870.1:p.Pro981=
XM_017008382.1:c.2295T>C (BMP2K)	XP_016863871.1:p.Pro765=
XR_938694.3:n.1098-5569A>G (PAQR3)
NM_198892.2:c.3183T>C (BMP2K) MANE Select	NP_942595.1:p.Pro1061=