Canonical Allele Identifier: CA357404708

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79832906T>C (hg19) ; chr4:g.78911752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911752T>C , CM000666.2:g.78911752T>C	GRCh38
NC_000004.11:g.79832906T>C , CM000666.1:g.79832906T>C	GRCh37
NC_000004.10:g.80051930T>C	NCBI36
NG_047162.1:g.140375T>C
NG_053104.1:g.32687A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3205T>C (BMP2K) MANE Select	ENSP00000424668.2:p.Phe1069Leu
ENST00000335016.9:c.3205T>C (BMP2K)	ENSP00000334836.5:p.Phe1069Leu
ENST00000342820.10:c.*782+3458A>G (PAQR3)	ENSP00000344203.6:n.*782+3458A>G
ENST00000502613.1:c.2282T>C (BMP2K)
ENST00000511594.5:c.*437A>G (PAQR3)	ENSP00000425080.1:n.*437A>G
ENST00000512760.5:c.*792+3458A>G (PAQR3)	ENSP00000426875.1:n.*792+3458A>G
ENST00000628286.1:c.*2181T>C (BMP2K)	ENSP00000487317.1:n.*2181T>C
NM_198892.1:c.3205T>C (BMP2K)	NP_942595.1:p.Phe1069Leu
XM_005263117.1:c.3094T>C (BMP2K)	XP_005263174.1:p.Phe1032Leu
XM_011532101.1:c.2965T>C (BMP2K)	XP_011530403.1:p.Phe989Leu
XR_938694.1:n.1118-5591A>G (PAQR3)
XM_017008381.1:c.2965T>C (BMP2K)	XP_016863870.1:p.Phe989Leu
XM_017008382.1:c.2317T>C (BMP2K)	XP_016863871.1:p.Phe773Leu
XR_938694.3:n.1098-5591A>G (PAQR3)
NM_198892.2:c.3205T>C (BMP2K) MANE Select	NP_942595.1:p.Phe1069Leu