Canonical Allele Identifier: CA445518401

Gene: ERAP2 ERAP1

Linked Data

• dbSNP Id: rs1171370048
• gnomAD v2: 5-96235845-T-C
• gnomAD v4: 5-96900141-T-C
• MyVariant Identifiers: chr5:g.96235845T>C (hg19) ; chr5:g.96900141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96900141T>C , CM000667.2:g.96900141T>C	GRCh38
NC_000005.9:g.96235845T>C , CM000667.1:g.96235845T>C	GRCh37
NC_000005.8:g.96261601T>C	NCBI36
NG_027839.2:g.40843A>G
NG_051092.1:g.29203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000510373.6:c.1524T>C (ERAP2)	ENSP00000421175.2:p.Phe508=
ENST00000437043.8:c.1524T>C (ERAP2) MANE Select	ENSP00000400376.3:p.Phe508=
ENST00000379904.8:c.1389T>C (ERAP2)	ENSP00000369235.4:p.Phe463=
ENST00000437043.7:c.1524T>C (ERAP2)	ENSP00000400376.3:p.Phe508=
ENST00000510373.5:c.1524T>C (ERAP2)	ENSP00000421175.1:p.Phe508=
ENST00000513084.5:c.1524T>C (ERAP2)	ENSP00000421849.1:p.Phe508=
ENST00000513368.1:n.313T>C (ERAP2)
ENST00000515095.5:n.435T>C (ERAP2)
ENST00000515387.1:n.255T>C (ERAP2)
NM_001130140.1:c.1524T>C (ERAP2)	NP_001123612.1:p.Phe508=
NM_022350.3:c.1524T>C (ERAP2)	NP_071745.1:p.Phe508=
XM_011543480.1:c.-705-26469A>G (ERAP1)	XP_011541782.1:n.-705-26469A>G
XM_011543481.1:c.-702-26469A>G (ERAP1)	XP_011541783.1:n.-702-26469A>G
XM_011543482.1:c.-709-26469A>G (ERAP1)	XP_011541784.1:n.-709-26469A>G
XM_011543483.1:c.-872-26469A>G (ERAP1)	XP_011541785.1:n.-872-26469A>G
XM_011543484.1:c.-701-26469A>G (ERAP1)	XP_011541786.1:n.-701-26469A>G
XM_011543485.1:c.-521-26469A>G (ERAP1)	XP_011541787.1:n.-521-26469A>G
XM_011543486.1:c.-705-26469A>G (ERAP1)	XP_011541788.1:n.-705-26469A>G
XM_011543487.1:c.-705-26469A>G (ERAP1)	XP_011541789.1:n.-705-26469A>G
XM_011543544.1:c.1504-1365T>C (ERAP2)	XP_011541846.1:n.1504-1365T>C
XR_948283.1:n.1707T>C (ERAP2)
NM_001130140.2:c.1524T>C (ERAP2)	NP_001123612.1:p.Phe508=
NM_001329229.1:c.1389T>C (ERAP2)	NP_001316158.1:p.Phe463=
NM_022350.4:c.1524T>C (ERAP2)	NP_071745.1:p.Phe508=
NR_137637.1:n.2235T>C (ERAP2)
XM_011543480.2:c.-705-26469A>G (ERAP1)	XP_011541782.1:n.-705-26469A>G
XM_011543481.2:c.-702-26469A>G (ERAP1)	XP_011541783.1:n.-702-26469A>G
XM_011543484.2:c.-701-26469A>G (ERAP1)	XP_011541786.1:n.-701-26469A>G
XM_011543485.2:c.-521-26469A>G (ERAP1)	XP_011541787.1:n.-521-26469A>G
XM_011543486.3:c.-705-26469A>G (ERAP1)	XP_011541788.1:n.-705-26469A>G
XM_011543544.2:c.1504-1365T>C (ERAP2)	XP_011541846.1:n.1504-1365T>C
XM_017009581.1:c.-547-26763A>G (ERAP1)	XP_016865070.1:n.-547-26763A>G
XM_024446113.1:c.-544-26763A>G (ERAP1)	XP_024301881.1:n.-544-26763A>G
XR_001742179.2:n.1692T>C (ERAP2)
NM_022350.5:c.1524T>C (ERAP2) MANE Select	NP_071745.1:p.Phe508=