Canonical Allele Identifier: CA357404608

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911707-G-C
• MyVariant Identifiers: chr4:g.79832861G>C (hg19) ; chr4:g.78911707G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911707G>C , CM000666.2:g.78911707G>C	GRCh38
NC_000004.11:g.79832861G>C , CM000666.1:g.79832861G>C	GRCh37
NC_000004.10:g.80051885G>C	NCBI36
NG_047162.1:g.140330G>C
NG_053104.1:g.32732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3160G>C (BMP2K) MANE Select	ENSP00000424668.2:p.Asp1054His
ENST00000335016.9:c.3160G>C (BMP2K)	ENSP00000334836.5:p.Asp1054His
ENST00000342820.10:c.*782+3503C>G (PAQR3)	ENSP00000344203.6:n.*782+3503C>G
ENST00000502613.1:c.2237G>C (BMP2K)
ENST00000511594.5:c.*482C>G (PAQR3)	ENSP00000425080.1:n.*482C>G
ENST00000512760.5:c.*792+3503C>G (PAQR3)	ENSP00000426875.1:n.*792+3503C>G
ENST00000628286.1:c.*2136G>C (BMP2K)	ENSP00000487317.1:n.*2136G>C
NM_198892.1:c.3160G>C (BMP2K)	NP_942595.1:p.Asp1054His
XM_005263117.1:c.3049G>C (BMP2K)	XP_005263174.1:p.Asp1017His
XM_011532101.1:c.2920G>C (BMP2K)	XP_011530403.1:p.Asp974His
XR_938694.1:n.1118-5546C>G (PAQR3)
XM_017008381.1:c.2920G>C (BMP2K)	XP_016863870.1:p.Asp974His
XM_017008382.1:c.2272G>C (BMP2K)	XP_016863871.1:p.Asp758His
XR_938694.3:n.1098-5546C>G (PAQR3)
NM_198892.2:c.3160G>C (BMP2K) MANE Select	NP_942595.1:p.Asp1054His