Canonical Allele Identifier: CA357404782

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs1302737856
• gnomAD v3: 4-78911788-T-C
• gnomAD v4: 4-78911788-T-C
• MyVariant Identifiers: chr4:g.79832942T>C (hg19) ; chr4:g.78911788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911788T>C , CM000666.2:g.78911788T>C	GRCh38
NC_000004.11:g.79832942T>C , CM000666.1:g.79832942T>C	GRCh37
NC_000004.10:g.80051966T>C	NCBI36
NG_047162.1:g.140411T>C
NG_053104.1:g.32651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3241T>C (BMP2K) MANE Select	ENSP00000424668.2:p.Trp1081Arg
ENST00000335016.9:c.3241T>C (BMP2K)	ENSP00000334836.5:p.Trp1081Arg
ENST00000342820.10:c.*782+3422A>G (PAQR3)	ENSP00000344203.6:n.*782+3422A>G
ENST00000502613.1:c.2318T>C (BMP2K)
ENST00000511594.5:c.*401A>G (PAQR3)	ENSP00000425080.1:n.*401A>G
ENST00000512760.5:c.*792+3422A>G (PAQR3)	ENSP00000426875.1:n.*792+3422A>G
ENST00000628286.1:c.*2217T>C (BMP2K)	ENSP00000487317.1:n.*2217T>C
NM_198892.1:c.3241T>C (BMP2K)	NP_942595.1:p.Trp1081Arg
XM_005263117.1:c.3130T>C (BMP2K)	XP_005263174.1:p.Trp1044Arg
XM_011532101.1:c.3001T>C (BMP2K)	XP_011530403.1:p.Trp1001Arg
XR_938694.1:n.1118-5627A>G (PAQR3)
XM_017008381.1:c.3001T>C (BMP2K)	XP_016863870.1:p.Trp1001Arg
XM_017008382.1:c.2353T>C (BMP2K)	XP_016863871.1:p.Trp785Arg
XR_938694.3:n.1098-5627A>G (PAQR3)
NM_198892.2:c.3241T>C (BMP2K) MANE Select	NP_942595.1:p.Trp1081Arg