Canonical Allele Identifier: CA2980669

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs371511868
• ExAC: 4:79832695 T / C
• gnomAD v2: 4-79832695-T-C
• gnomAD v3: 4-78911541-T-C
• gnomAD v4: 4-78911541-T-C
• MyVariant Identifiers: chr4:g.79832695T>C (hg19) ; chr4:g.78911541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911541T>C , CM000666.2:g.78911541T>C	GRCh38
NC_000004.11:g.79832695T>C , CM000666.1:g.79832695T>C	GRCh37
NC_000004.10:g.80051719T>C	NCBI36
NG_047162.1:g.140164T>C
NG_053104.1:g.32898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2994T>C (BMP2K) MANE Select	ENSP00000424668.2:p.His998=
ENST00000335016.9:c.2994T>C (BMP2K)	ENSP00000334836.5:p.His998=
ENST00000342820.10:c.*782+3669A>G (PAQR3)	ENSP00000344203.6:n.*782+3669A>G
ENST00000502613.1:c.2071T>C (BMP2K)
ENST00000511594.5:c.*648A>G (PAQR3)	ENSP00000425080.1:n.*648A>G
ENST00000512760.5:c.*792+3669A>G (PAQR3)	ENSP00000426875.1:n.*792+3669A>G
ENST00000628286.1:c.*1970T>C (BMP2K)	ENSP00000487317.1:n.*1970T>C
NM_198892.1:c.2994T>C (BMP2K)	NP_942595.1:p.His998=
XM_005263117.1:c.2883T>C (BMP2K)	XP_005263174.1:p.His961=
XM_011532101.1:c.2754T>C (BMP2K)	XP_011530403.1:p.His918=
XR_938694.1:n.1118-5380A>G (PAQR3)
XM_017008381.1:c.2754T>C (BMP2K)	XP_016863870.1:p.His918=
XM_017008382.1:c.2106T>C (BMP2K)	XP_016863871.1:p.His702=
XR_938694.3:n.1098-5380A>G (PAQR3)
NM_198892.2:c.2994T>C (BMP2K) MANE Select	NP_942595.1:p.His998=