Canonical Allele Identifier: CA122979357

Gene: ERAP2 ERAP1

Linked Data

• dbSNP Id: rs1020896014
• gnomAD v3: 5-96917142-T-C
• gnomAD v4: 5-96917142-T-C
• MyVariant Identifiers: chr5:g.96252846T>C (hg19) ; chr5:g.96917142T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96917142T>C , CM000667.2:g.96917142T>C	GRCh38
NC_000005.9:g.96252846T>C , CM000667.1:g.96252846T>C	GRCh37
NC_000005.8:g.96278602T>C	NCBI36
NG_027839.2:g.23842A>G
NG_051092.1:g.46204T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000510373.6:c.2740-320T>C (ERAP2)	ENSP00000421175.2:n.2740-320T>C
ENST00000437043.8:c.2740-320T>C (ERAP2) MANE Select	ENSP00000400376.3:n.2740-320T>C
ENST00000379904.8:c.2605-320T>C (ERAP2)	ENSP00000369235.4:n.2605-320T>C
ENST00000437043.7:c.2740-320T>C (ERAP2)	ENSP00000400376.3:n.2740-320T>C
ENST00000513084.5:c.*1242-320T>C (ERAP2)	ENSP00000421849.1:n.*1242-320T>C
NM_001130140.1:c.2740-320T>C (ERAP2)	NP_001123612.1:n.2740-320T>C
NM_022350.3:c.2740-320T>C (ERAP2)	NP_071745.1:n.2740-320T>C
XM_011543480.1:c.-706+16980A>G (ERAP1)	XP_011541782.1:n.-706+16980A>G
XM_011543481.1:c.-703+16980A>G (ERAP1)	XP_011541783.1:n.-703+16980A>G
XM_011543482.1:c.-710+16980A>G (ERAP1)	XP_011541784.1:n.-710+16980A>G
XM_011543483.1:c.-873+16980A>G (ERAP1)	XP_011541785.1:n.-873+16980A>G
XM_011543484.1:c.-702+16980A>G (ERAP1)	XP_011541786.1:n.-702+16980A>G
XM_011543485.1:c.-522+16980A>G (ERAP1)	XP_011541787.1:n.-522+16980A>G
XM_011543486.1:c.-706+16980A>G (ERAP1)	XP_011541788.1:n.-706+16980A>G
XM_011543487.1:c.-706+16980A>G (ERAP1)	XP_011541789.1:n.-706+16980A>G
XM_011543544.1:c.2671-320T>C (ERAP2)	XP_011541846.1:n.2671-320T>C
NM_001130140.2:c.2740-320T>C (ERAP2)	NP_001123612.1:n.2740-320T>C
NM_001329229.1:c.2605-320T>C (ERAP2)	NP_001316158.1:n.2605-320T>C
NM_022350.4:c.2740-320T>C (ERAP2)	NP_071745.1:n.2740-320T>C
NR_137637.1:n.3552-320T>C (ERAP2)
XM_011543480.2:c.-706+16980A>G (ERAP1)	XP_011541782.1:n.-706+16980A>G
XM_011543481.2:c.-703+16980A>G (ERAP1)	XP_011541783.1:n.-703+16980A>G
XM_011543484.2:c.-702+16980A>G (ERAP1)	XP_011541786.1:n.-702+16980A>G
XM_011543485.2:c.-522+16980A>G (ERAP1)	XP_011541787.1:n.-522+16980A>G
XM_011543486.3:c.-706+16980A>G (ERAP1)	XP_011541788.1:n.-706+16980A>G
XM_011543544.2:c.2671-320T>C (ERAP2)	XP_011541846.1:n.2671-320T>C
XM_017009581.1:c.-548+16980A>G (ERAP1)	XP_016865070.1:n.-548+16980A>G
XM_024446113.1:c.-545+16980A>G (ERAP1)	XP_024301881.1:n.-545+16980A>G
XR_001742179.2:n.2953-320T>C (ERAP2)
NM_022350.5:c.2740-320T>C (ERAP2) MANE Select	NP_071745.1:n.2740-320T>C