Canonical Allele Identifier: CA357404382

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs2110111243
• gnomAD v4: 4-78911647-G-C
• MyVariant Identifiers: chr4:g.79832801G>C (hg19) ; chr4:g.78911647G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911647G>C , CM000666.2:g.78911647G>C	GRCh38
NC_000004.11:g.79832801G>C , CM000666.1:g.79832801G>C	GRCh37
NC_000004.10:g.80051825G>C	NCBI36
NG_047162.1:g.140270G>C
NG_053104.1:g.32792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3100G>C (BMP2K) MANE Select	ENSP00000424668.2:p.Glu1034Gln
ENST00000335016.9:c.3100G>C (BMP2K)	ENSP00000334836.5:p.Glu1034Gln
ENST00000342820.10:c.*782+3563C>G (PAQR3)	ENSP00000344203.6:n.*782+3563C>G
ENST00000502613.1:c.2177G>C (BMP2K)
ENST00000511594.5:c.*542C>G (PAQR3)	ENSP00000425080.1:n.*542C>G
ENST00000512760.5:c.*792+3563C>G (PAQR3)	ENSP00000426875.1:n.*792+3563C>G
ENST00000628286.1:c.*2076G>C (BMP2K)	ENSP00000487317.1:n.*2076G>C
NM_198892.1:c.3100G>C (BMP2K)	NP_942595.1:p.Glu1034Gln
XM_005263117.1:c.2989G>C (BMP2K)	XP_005263174.1:p.Glu997Gln
XM_011532101.1:c.2860G>C (BMP2K)	XP_011530403.1:p.Glu954Gln
XR_938694.1:n.1118-5486C>G (PAQR3)
XM_017008381.1:c.2860G>C (BMP2K)	XP_016863870.1:p.Glu954Gln
XM_017008382.1:c.2212G>C (BMP2K)	XP_016863871.1:p.Glu738Gln
XR_938694.3:n.1098-5486C>G (PAQR3)
NM_198892.2:c.3100G>C (BMP2K) MANE Select	NP_942595.1:p.Glu1034Gln