Canonical Allele Identifier: CA357403655
Gene: BMP2K HGNC NCBI
PAQR3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.79832705A>T (hg19) chr4:g.78911551A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911551A>T , CM000666.2:g.78911551A>T GRCh38
NC_000004.11:g.79832705A>T , CM000666.1:g.79832705A>T GRCh37
NC_000004.10:g.80051729A>T NCBI36
NG_047162.1:g.140174A>T
NG_053104.1:g.32888T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000502613.3:c.3004A>T (BMP2K) MANE Select ENSP00000424668.2:p.Thr1002Ser
ENST00000335016.9:c.3004A>T (BMP2K) ENSP00000334836.5:p.Thr1002Ser
ENST00000342820.10:c.*782+3659T>A (PAQR3) ENSP00000344203.6:n.*782+3659T>A
ENST00000502613.1:c.2081A>T (BMP2K)
ENST00000511594.5:c.*638T>A (PAQR3) ENSP00000425080.1:n.*638T>A
ENST00000512760.5:c.*792+3659T>A (PAQR3) ENSP00000426875.1:n.*792+3659T>A
ENST00000628286.1:c.*1980A>T (BMP2K) ENSP00000487317.1:n.*1980A>T
NM_198892.1:c.3004A>T (BMP2K) NP_942595.1:p.Thr1002Ser
XM_005263117.1:c.2893A>T (BMP2K) XP_005263174.1:p.Thr965Ser
XM_011532101.1:c.2764A>T (BMP2K) XP_011530403.1:p.Thr922Ser
XR_938694.1:n.1118-5390T>A (PAQR3)
XM_017008381.1:c.2764A>T (BMP2K) XP_016863870.1:p.Thr922Ser
XM_017008382.1:c.2116A>T (BMP2K) XP_016863871.1:p.Thr706Ser
XR_938694.3:n.1098-5390T>A (PAQR3)
NM_198892.2:c.3004A>T (BMP2K) MANE Select NP_942595.1:p.Thr1002Ser
Search 100 bp 5'
Search 100 bp 3'