Canonical Allele Identifier: CA561286458

Linked Data

dbSNP Id: rs1437908509
gnomAD v2: 5-96252821-C-A
gnomAD v3: 5-96917117-C-A
gnomAD v4: 5-96917117-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96917117C>A , CM000667.2:g.96917117C>A GRCh38
NC_000005.9:g.96252821C>A , CM000667.1:g.96252821C>A GRCh37
NC_000005.8:g.96278577C>A NCBI36
NG_027839.2:g.23867G>T
NG_051092.1:g.46179C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000510373.6:c.2740-345C>A (ERAP2) ENSP00000421175.2:n.2740-345C>A
ENST00000437043.8:c.2740-345C>A (ERAP2) MANE Select ENSP00000400376.3:n.2740-345C>A
ENST00000379904.8:c.2605-345C>A (ERAP2) ENSP00000369235.4:n.2605-345C>A
ENST00000437043.7:c.2740-345C>A (ERAP2) ENSP00000400376.3:n.2740-345C>A
ENST00000513084.5:c.*1242-345C>A (ERAP2) ENSP00000421849.1:n.*1242-345C>A
NM_001130140.1:c.2740-345C>A (ERAP2) NP_001123612.1:n.2740-345C>A
NM_022350.3:c.2740-345C>A (ERAP2) NP_071745.1:n.2740-345C>A
XM_011543480.1:c.-706+17005G>T (ERAP1) XP_011541782.1:n.-706+17005G>T
XM_011543481.1:c.-703+17005G>T (ERAP1) XP_011541783.1:n.-703+17005G>T
XM_011543482.1:c.-710+17005G>T (ERAP1) XP_011541784.1:n.-710+17005G>T
XM_011543483.1:c.-873+17005G>T (ERAP1) XP_011541785.1:n.-873+17005G>T
XM_011543484.1:c.-702+17005G>T (ERAP1) XP_011541786.1:n.-702+17005G>T
XM_011543485.1:c.-522+17005G>T (ERAP1) XP_011541787.1:n.-522+17005G>T
XM_011543486.1:c.-706+17005G>T (ERAP1) XP_011541788.1:n.-706+17005G>T
XM_011543487.1:c.-706+17005G>T (ERAP1) XP_011541789.1:n.-706+17005G>T
XM_011543544.1:c.2671-345C>A (ERAP2) XP_011541846.1:n.2671-345C>A
NM_001130140.2:c.2740-345C>A (ERAP2) NP_001123612.1:n.2740-345C>A
NM_001329229.1:c.2605-345C>A (ERAP2) NP_001316158.1:n.2605-345C>A
NM_022350.4:c.2740-345C>A (ERAP2) NP_071745.1:n.2740-345C>A
NR_137637.1:n.3552-345C>A (ERAP2)
XM_011543480.2:c.-706+17005G>T (ERAP1) XP_011541782.1:n.-706+17005G>T
XM_011543481.2:c.-703+17005G>T (ERAP1) XP_011541783.1:n.-703+17005G>T
XM_011543484.2:c.-702+17005G>T (ERAP1) XP_011541786.1:n.-702+17005G>T
XM_011543485.2:c.-522+17005G>T (ERAP1) XP_011541787.1:n.-522+17005G>T
XM_011543486.3:c.-706+17005G>T (ERAP1) XP_011541788.1:n.-706+17005G>T
XM_011543544.2:c.2671-345C>A (ERAP2) XP_011541846.1:n.2671-345C>A
XM_017009581.1:c.-548+17005G>T (ERAP1) XP_016865070.1:n.-548+17005G>T
XM_024446113.1:c.-545+17005G>T (ERAP1) XP_024301881.1:n.-545+17005G>T
XR_001742179.2:n.2953-345C>A (ERAP2)
NM_022350.5:c.2740-345C>A (ERAP2) MANE Select NP_071745.1:n.2740-345C>A