Canonical Allele Identifier: CA6438582
Community Standard Title: NM_000014.6(A2M):c.1760T>C (p.Val587Ala)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9098698A>G , CM000674.2:g.9098698A>G GRCh38
NC_000012.11:g.9251294A>G , CM000674.1:g.9251294A>G GRCh37
NC_000012.10:g.9142561A>G NCBI36
NG_011717.1:g.22265T>C
NG_011717.2:g.22265T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000014.6:c.1760T>C (A2M) MANE Select NP_000005.3:p.Val587Ala
ENST00000318602.12:c.1760T>C (A2M) MANE Select ENSP00000323929.8:p.Val587Ala
NM_000014.4:c.1760T>C (A2M) NP_000005.2:p.Val587Ala
NM_000014.5:c.1760T>C (A2M) NP_000005.2:p.Val587Ala
NM_001347423.1:c.1760T>C (A2M) NP_001334352.1:p.Val587Ala
NM_001347423.2:c.1760T>C (A2M) NP_001334352.2:p.Val587Ala
NM_001347424.1:c.1460T>C (A2M) NP_001334353.1:p.Val487Ala
NM_001347424.2:c.1460T>C (A2M) NP_001334353.2:p.Val487Ala
NM_001347425.1:c.1310T>C (A2M) NP_001334354.1:p.Val437Ala
NM_001347425.2:c.1310T>C (A2M) NP_001334354.2:p.Val437Ala
ENST00000318602.11:c.1760T>C (A2M) ENSP00000323929.7:p.Val587Ala
ENST00000472360.1:n.376T>C (A2M)
ENST00000545828.1:n.348+2852T>C (A2M)
ENST00000546069.1:c.170+768T>C (A2M) ENSP00000438599.1:n.170+768T>C
XM_006719056.2:c.1760T>C (A2M) XP_006719119.1:p.Val587Ala
XM_006719056.3:c.1760T>C (A2M) XP_006719119.1:p.Val587Ala
XM_017018683.1:c.*34-26676A>G (KLRG1) XP_016874172.1:n.*34-26676A>G
XM_017018684.1:c.*34-36388A>G (KLRG1) XP_016874173.1:n.*34-36388A>G
XM_017018685.1:c.*33+40532A>G (KLRG1) XP_016874174.1:n.*33+40532A>G