Canonical Allele Identifier: CA440226521

Gene: BMP2K PAQR3

Linked Data

• MyVariant Identifiers: chr4:g.79833010A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911856A>C , CM000666.2:g.78911856A>C	GRCh38
NC_000004.11:g.79833010A>C , CM000666.1:g.79833010A>C	GRCh37
NC_000004.10:g.80052034A>C	NCBI36
NG_047162.1:g.140479A>C
NG_053104.1:g.32583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3309A>C (BMP2K) MANE Select	ENSP00000424668.2:p.Pro1103=
ENST00000335016.9:c.3309A>C (BMP2K)	ENSP00000334836.5:p.Pro1103=
ENST00000342820.10:c.*782+3354T>G (PAQR3)	ENSP00000344203.6:n.*782+3354T>G
ENST00000502613.1:c.2386A>C (BMP2K)
ENST00000511594.5:c.*333T>G (PAQR3)	ENSP00000425080.1:n.*333T>G
ENST00000512760.5:c.*792+3354T>G (PAQR3)	ENSP00000426875.1:n.*792+3354T>G
ENST00000628286.1:c.*2285A>C (BMP2K)	ENSP00000487317.1:n.*2285A>C
NM_198892.1:c.3309A>C (BMP2K)	NP_942595.1:p.Pro1103=
XM_005263117.1:c.3198A>C (BMP2K)	XP_005263174.1:p.Pro1066=
XM_011532101.1:c.3069A>C (BMP2K)	XP_011530403.1:p.Pro1023=
XR_938694.1:n.1118-5695T>G (PAQR3)
XM_017008381.1:c.3069A>C (BMP2K)	XP_016863870.1:p.Pro1023=
XM_017008382.1:c.2421A>C (BMP2K)	XP_016863871.1:p.Pro807=
XR_938694.3:n.1098-5695T>G (PAQR3)
NM_198892.2:c.3309A>C (BMP2K) MANE Select	NP_942595.1:p.Pro1103=