Canonical Allele Identifier: CA2980649

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs768633632
• ExAC: 4:79832610 TCAAACAGC / T
• gnomAD v2: 4-79832610-TCAAACAGC-T
• MyVariant Identifiers: chr4:g.79832611_79832618del (hg19) ; chr4:g.78911457_78911464del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911457_78911464del , CM000666.2:g.78911457_78911464del	GRCh38
NC_000004.11:g.79832611_79832618del , CM000666.1:g.79832611_79832618del	GRCh37
NC_000004.10:g.80051635_80051642del	NCBI36
NG_047162.1:g.140080_140087del
NG_053104.1:g.32975_32982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2910_2917del (BMP2K) MANE Select	ENSP00000424668.2:p.Lys971GlnfsTer20
ENST00000335016.9:c.2910_2917del (BMP2K)	ENSP00000334836.5:p.Lys971GlnfsTer20
ENST00000342820.10:c.*782+3746_*782+3753del (PAQR3)	ENSP00000344203.6:n.*782+3746_*782+3753del
ENST00000502613.1:c.1987_1994del (BMP2K)
ENST00000511594.5:c.*725_*732del (PAQR3)	ENSP00000425080.1:n.*725_*732del
ENST00000512760.5:c.*792+3746_*792+3753del (PAQR3)	ENSP00000426875.1:n.*792+3746_*792+3753del
ENST00000628286.1:c.*1886_*1893del (BMP2K)	ENSP00000487317.1:n.*1886_*1893del
NM_198892.1:c.2910_2917del (BMP2K)	NP_942595.1:p.Lys971GlnfsTer20
XM_005263117.1:c.2799_2806del (BMP2K)	XP_005263174.1:p.Lys934GlnfsTer20
XM_011532101.1:c.2670_2677del (BMP2K)	XP_011530403.1:p.Lys891GlnfsTer20
XR_938694.1:n.1118-5303_1118-5296del (PAQR3)
XM_017008381.1:c.2670_2677del (BMP2K)	XP_016863870.1:p.Lys891GlnfsTer20
XM_017008382.1:c.2022_2029del (BMP2K)	XP_016863871.1:p.Lys675GlnfsTer20
XR_938694.3:n.1098-5303_1098-5296del (PAQR3)
NM_198892.2:c.2910_2917del (BMP2K) MANE Select	NP_942595.1:p.Lys971GlnfsTer20