Canonical Allele Identifier: CA445518385

Linked Data

MyVariant Identifiers: chr5:g.96235839T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96900135T>C , CM000667.2:g.96900135T>C GRCh38
NC_000005.9:g.96235839T>C , CM000667.1:g.96235839T>C GRCh37
NC_000005.8:g.96261595T>C NCBI36
NG_027839.2:g.40849A>G
NG_051092.1:g.29197T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000510373.6:c.1518T>C (ERAP2) ENSP00000421175.2:p.Ser506=
ENST00000437043.8:c.1518T>C (ERAP2) MANE Select ENSP00000400376.3:p.Ser506=
ENST00000379904.8:c.1383T>C (ERAP2) ENSP00000369235.4:p.Ser461=
ENST00000437043.7:c.1518T>C (ERAP2) ENSP00000400376.3:p.Ser506=
ENST00000510373.5:c.1518T>C (ERAP2) ENSP00000421175.1:p.Ser506=
ENST00000513084.5:c.1518T>C (ERAP2) ENSP00000421849.1:p.Ser506=
ENST00000513368.1:n.307T>C (ERAP2)
ENST00000515095.5:n.429T>C (ERAP2)
ENST00000515387.1:n.249T>C (ERAP2)
NM_001130140.1:c.1518T>C (ERAP2) NP_001123612.1:p.Ser506=
NM_022350.3:c.1518T>C (ERAP2) NP_071745.1:p.Ser506=
XM_011543480.1:c.-705-26463A>G (ERAP1) XP_011541782.1:n.-705-26463A>G
XM_011543481.1:c.-702-26463A>G (ERAP1) XP_011541783.1:n.-702-26463A>G
XM_011543482.1:c.-709-26463A>G (ERAP1) XP_011541784.1:n.-709-26463A>G
XM_011543483.1:c.-872-26463A>G (ERAP1) XP_011541785.1:n.-872-26463A>G
XM_011543484.1:c.-701-26463A>G (ERAP1) XP_011541786.1:n.-701-26463A>G
XM_011543485.1:c.-521-26463A>G (ERAP1) XP_011541787.1:n.-521-26463A>G
XM_011543486.1:c.-705-26463A>G (ERAP1) XP_011541788.1:n.-705-26463A>G
XM_011543487.1:c.-705-26463A>G (ERAP1) XP_011541789.1:n.-705-26463A>G
XM_011543544.1:c.1504-1371T>C (ERAP2) XP_011541846.1:n.1504-1371T>C
XR_948283.1:n.1701T>C (ERAP2)
NM_001130140.2:c.1518T>C (ERAP2) NP_001123612.1:p.Ser506=
NM_001329229.1:c.1383T>C (ERAP2) NP_001316158.1:p.Ser461=
NM_022350.4:c.1518T>C (ERAP2) NP_071745.1:p.Ser506=
NR_137637.1:n.2229T>C (ERAP2)
XM_011543480.2:c.-705-26463A>G (ERAP1) XP_011541782.1:n.-705-26463A>G
XM_011543481.2:c.-702-26463A>G (ERAP1) XP_011541783.1:n.-702-26463A>G
XM_011543484.2:c.-701-26463A>G (ERAP1) XP_011541786.1:n.-701-26463A>G
XM_011543485.2:c.-521-26463A>G (ERAP1) XP_011541787.1:n.-521-26463A>G
XM_011543486.3:c.-705-26463A>G (ERAP1) XP_011541788.1:n.-705-26463A>G
XM_011543544.2:c.1504-1371T>C (ERAP2) XP_011541846.1:n.1504-1371T>C
XM_017009581.1:c.-547-26757A>G (ERAP1) XP_016865070.1:n.-547-26757A>G
XM_024446113.1:c.-544-26757A>G (ERAP1) XP_024301881.1:n.-544-26757A>G
XR_001742179.2:n.1686T>C (ERAP2)
NM_022350.5:c.1518T>C (ERAP2) MANE Select NP_071745.1:p.Ser506=