Canonical Allele Identifier: CA2980634

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs761673831
• ExAC: 4:79832512 T / G
• gnomAD v2: 4-79832512-T-G
• gnomAD v4: 4-78911358-T-G
• MyVariant Identifiers: chr4:g.79832512T>G (hg19) ; chr4:g.78911358T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911358T>G , CM000666.2:g.78911358T>G	GRCh38
NC_000004.11:g.79832512T>G , CM000666.1:g.79832512T>G	GRCh37
NC_000004.10:g.80051536T>G	NCBI36
NG_047162.1:g.139981T>G
NG_053104.1:g.33081A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2811T>G (BMP2K) MANE Select	ENSP00000424668.2:p.Phe937Leu
ENST00000335016.9:c.2811T>G (BMP2K)	ENSP00000334836.5:p.Phe937Leu
ENST00000342820.10:c.*782+3852A>C (PAQR3)	ENSP00000344203.6:n.*782+3852A>C
ENST00000502613.1:c.1888T>G (BMP2K)
ENST00000511594.5:c.*831A>C (PAQR3)	ENSP00000425080.1:n.*831A>C
ENST00000512760.5:c.*792+3852A>C (PAQR3)	ENSP00000426875.1:n.*792+3852A>C
ENST00000628286.1:c.*1787T>G (BMP2K)	ENSP00000487317.1:n.*1787T>G
NM_198892.1:c.2811T>G (BMP2K)	NP_942595.1:p.Phe937Leu
XM_005263117.1:c.2700T>G (BMP2K)	XP_005263174.1:p.Phe900Leu
XM_011532101.1:c.2571T>G (BMP2K)	XP_011530403.1:p.Phe857Leu
XR_938694.1:n.1118-5197A>C (PAQR3)
XM_017008381.1:c.2571T>G (BMP2K)	XP_016863870.1:p.Phe857Leu
XM_017008382.1:c.1923T>G (BMP2K)	XP_016863871.1:p.Phe641Leu
XR_938694.3:n.1098-5197A>C (PAQR3)
NM_198892.2:c.2811T>G (BMP2K) MANE Select	NP_942595.1:p.Phe937Leu