Canonical Allele Identifier: CA2980670

Gene: BMP2K PAQR3

Linked Data

• dbSNP Id: rs768779049
• ExAC: 4:79832700 C / T
• gnomAD v2: 4-79832700-C-T
• gnomAD v3: 4-78911546-C-T
• gnomAD v4: 4-78911546-C-T
• COSMIC: COSM5629880
• MyVariant Identifiers: chr4:g.79832700C>T (hg19) ; chr4:g.78911546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78911546C>T , CM000666.2:g.78911546C>T	GRCh38
NC_000004.11:g.79832700C>T , CM000666.1:g.79832700C>T	GRCh37
NC_000004.10:g.80051724C>T	NCBI36
NG_047162.1:g.140169C>T
NG_053104.1:g.32893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.2999C>T (BMP2K) MANE Select	ENSP00000424668.2:p.Thr1000Met
ENST00000335016.9:c.2999C>T (BMP2K)	ENSP00000334836.5:p.Thr1000Met
ENST00000342820.10:c.*782+3664G>A (PAQR3)	ENSP00000344203.6:n.*782+3664G>A
ENST00000502613.1:c.2076C>T (BMP2K)
ENST00000511594.5:c.*643G>A (PAQR3)	ENSP00000425080.1:n.*643G>A
ENST00000512760.5:c.*792+3664G>A (PAQR3)	ENSP00000426875.1:n.*792+3664G>A
ENST00000628286.1:c.*1975C>T (BMP2K)	ENSP00000487317.1:n.*1975C>T
NM_198892.1:c.2999C>T (BMP2K)	NP_942595.1:p.Thr1000Met
XM_005263117.1:c.2888C>T (BMP2K)	XP_005263174.1:p.Thr963Met
XM_011532101.1:c.2759C>T (BMP2K)	XP_011530403.1:p.Thr920Met
XR_938694.1:n.1118-5385G>A (PAQR3)
XM_017008381.1:c.2759C>T (BMP2K)	XP_016863870.1:p.Thr920Met
XM_017008382.1:c.2111C>T (BMP2K)	XP_016863871.1:p.Thr704Met
XR_938694.3:n.1098-5385G>A (PAQR3)
NM_198892.2:c.2999C>T (BMP2K) MANE Select	NP_942595.1:p.Thr1000Met