Canonical Allele Identifier: CA1079063118

Linked Data

dbSNP Id: rs752109941
gnomAD v3: 5-96900221-G-T
gnomAD v4: 5-96900221-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96900221G>T , CM000667.2:g.96900221G>T GRCh38
NC_000005.9:g.96235925G>T , CM000667.1:g.96235925G>T GRCh37
NC_000005.8:g.96261681G>T NCBI36
NG_027839.2:g.40763C>A
NG_051092.1:g.29283G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000510373.6:c.1572+32G>T (ERAP2) ENSP00000421175.2:n.1572+32G>T
ENST00000437043.8:c.1572+32G>T (ERAP2) MANE Select ENSP00000400376.3:n.1572+32G>T
ENST00000379904.8:c.1437+32G>T (ERAP2) ENSP00000369235.4:n.1437+32G>T
ENST00000437043.7:c.1572+32G>T (ERAP2) ENSP00000400376.3:n.1572+32G>T
ENST00000510373.5:c.1572+32G>T (ERAP2) ENSP00000421175.1:n.1572+32G>T
ENST00000513084.5:c.*5G>T (ERAP2) ENSP00000421849.1:n.*5G>T
ENST00000513368.1:n.393G>T (ERAP2)
ENST00000515095.5:n.483+32G>T (ERAP2)
ENST00000515387.1:n.303+32G>T (ERAP2)
NM_001130140.1:c.1572+32G>T (ERAP2) NP_001123612.1:n.1572+32G>T
NM_022350.3:c.1572+32G>T (ERAP2) NP_071745.1:n.1572+32G>T
XM_011543480.1:c.-705-26549C>A (ERAP1) XP_011541782.1:n.-705-26549C>A
XM_011543481.1:c.-702-26549C>A (ERAP1) XP_011541783.1:n.-702-26549C>A
XM_011543482.1:c.-709-26549C>A (ERAP1) XP_011541784.1:n.-709-26549C>A
XM_011543483.1:c.-872-26549C>A (ERAP1) XP_011541785.1:n.-872-26549C>A
XM_011543484.1:c.-701-26549C>A (ERAP1) XP_011541786.1:n.-701-26549C>A
XM_011543485.1:c.-521-26549C>A (ERAP1) XP_011541787.1:n.-521-26549C>A
XM_011543486.1:c.-705-26549C>A (ERAP1) XP_011541788.1:n.-705-26549C>A
XM_011543487.1:c.-705-26549C>A (ERAP1) XP_011541789.1:n.-705-26549C>A
XM_011543544.1:c.1504-1285G>T (ERAP2) XP_011541846.1:n.1504-1285G>T
XR_948283.1:n.1787G>T (ERAP2)
NM_001130140.2:c.1572+32G>T (ERAP2) NP_001123612.1:n.1572+32G>T
NM_001329229.1:c.1437+32G>T (ERAP2) NP_001316158.1:n.1437+32G>T
NM_022350.4:c.1572+32G>T (ERAP2) NP_071745.1:n.1572+32G>T
NR_137637.1:n.2315G>T (ERAP2)
XM_011543480.2:c.-705-26549C>A (ERAP1) XP_011541782.1:n.-705-26549C>A
XM_011543481.2:c.-702-26549C>A (ERAP1) XP_011541783.1:n.-702-26549C>A
XM_011543484.2:c.-701-26549C>A (ERAP1) XP_011541786.1:n.-701-26549C>A
XM_011543485.2:c.-521-26549C>A (ERAP1) XP_011541787.1:n.-521-26549C>A
XM_011543486.3:c.-705-26549C>A (ERAP1) XP_011541788.1:n.-705-26549C>A
XM_011543544.2:c.1504-1285G>T (ERAP2) XP_011541846.1:n.1504-1285G>T
XM_017009581.1:c.-547-26843C>A (ERAP1) XP_016865070.1:n.-547-26843C>A
XM_024446113.1:c.-544-26843C>A (ERAP1) XP_024301881.1:n.-544-26843C>A
XR_001742179.2:n.1740+32G>T (ERAP2)
NM_022350.5:c.1572+32G>T (ERAP2) MANE Select NP_071745.1:n.1572+32G>T