Canonical Allele Identifier: CA357404692

Gene: BMP2K PAQR3

Linked Data

• gnomAD v4: 4-78911745-G-C
• MyVariant Identifiers: chr4:g.79832899G>C (hg19) ; chr4:g.78911745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911745G>C , CM000666.2:g.78911745G>C	GRCh38
NC_000004.11:g.79832899G>C , CM000666.1:g.79832899G>C	GRCh37
NC_000004.10:g.80051923G>C	NCBI36
NG_047162.1:g.140368G>C
NG_053104.1:g.32694C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.3198G>C (BMP2K) MANE Select	ENSP00000424668.2:p.Leu1066Phe
ENST00000335016.9:c.3198G>C (BMP2K)	ENSP00000334836.5:p.Leu1066Phe
ENST00000342820.10:c.*782+3465C>G (PAQR3)	ENSP00000344203.6:n.*782+3465C>G
ENST00000502613.1:c.2275G>C (BMP2K)
ENST00000511594.5:c.*444C>G (PAQR3)	ENSP00000425080.1:n.*444C>G
ENST00000512760.5:c.*792+3465C>G (PAQR3)	ENSP00000426875.1:n.*792+3465C>G
ENST00000628286.1:c.*2174G>C (BMP2K)	ENSP00000487317.1:n.*2174G>C
NM_198892.1:c.3198G>C (BMP2K)	NP_942595.1:p.Leu1066Phe
XM_005263117.1:c.3087G>C (BMP2K)	XP_005263174.1:p.Leu1029Phe
XM_011532101.1:c.2958G>C (BMP2K)	XP_011530403.1:p.Leu986Phe
XR_938694.1:n.1118-5584C>G (PAQR3)
XM_017008381.1:c.2958G>C (BMP2K)	XP_016863870.1:p.Leu986Phe
XM_017008382.1:c.2310G>C (BMP2K)	XP_016863871.1:p.Leu770Phe
XR_938694.3:n.1098-5584C>G (PAQR3)
NM_198892.2:c.3198G>C (BMP2K) MANE Select	NP_942595.1:p.Leu1066Phe