Canonical Allele Identifier: CA440226372

Linked Data

MyVariant Identifiers: chr4:g.79832479C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911325C>A , CM000666.2:g.78911325C>A GRCh38
NC_000004.11:g.79832479C>A , CM000666.1:g.79832479C>A GRCh37
NC_000004.10:g.80051503C>A NCBI36
NG_047162.1:g.139948C>A
NG_053104.1:g.33114G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.2778C>A (BMP2K) MANE Select ENSP00000424668.2:p.Pro926=
ENST00000335016.9:c.2778C>A (BMP2K) ENSP00000334836.5:p.Pro926=
ENST00000342820.10:c.*782+3885G>T (PAQR3) ENSP00000344203.6:n.*782+3885G>T
ENST00000502613.1:c.1855C>A (BMP2K)
ENST00000511594.5:c.*864G>T (PAQR3) ENSP00000425080.1:n.*864G>T
ENST00000512760.5:c.*792+3885G>T (PAQR3) ENSP00000426875.1:n.*792+3885G>T
ENST00000628286.1:c.*1754C>A (BMP2K) ENSP00000487317.1:n.*1754C>A
NM_198892.1:c.2778C>A (BMP2K) NP_942595.1:p.Pro926=
XM_005263117.1:c.2667C>A (BMP2K) XP_005263174.1:p.Pro889=
XM_011532101.1:c.2538C>A (BMP2K) XP_011530403.1:p.Pro846=
XR_938694.1:n.1118-5164G>T (PAQR3)
XM_017008381.1:c.2538C>A (BMP2K) XP_016863870.1:p.Pro846=
XM_017008382.1:c.1890C>A (BMP2K) XP_016863871.1:p.Pro630=
XR_938694.3:n.1098-5164G>T (PAQR3)
NM_198892.2:c.2778C>A (BMP2K) MANE Select NP_942595.1:p.Pro926=