Canonical Allele Identifier: CA6438519

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9095618C>T , CM000674.2:g.9095618C>T GRCh38
NC_000012.11:g.9248214C>T , CM000674.1:g.9248214C>T GRCh37
NC_000012.10:g.9139481C>T NCBI36
NG_011717.1:g.25345G>A
NG_011717.2:g.25345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.1934G>A (A2M) MANE Select ENSP00000323929.8:p.Arg645His
ENST00000318602.11:c.1934G>A (A2M) ENSP00000323929.7:p.Arg645His
ENST00000545828.1:n.348+5932G>A (A2M)
ENST00000546069.1:c.253G>A (A2M) ENSP00000438599.1:n.253G>A
NM_000014.4:c.1934G>A (A2M) NP_000005.2:p.Arg645His
XM_006719056.2:c.1934G>A (A2M) XP_006719119.1:p.Arg645His
NM_000014.5:c.1934G>A (A2M) NP_000005.2:p.Arg645His
NM_001347423.1:c.1934G>A (A2M) NP_001334352.1:p.Arg645His
NM_001347424.1:c.1634G>A (A2M) NP_001334353.1:p.Arg545His
NM_001347425.1:c.1484G>A (A2M) NP_001334354.1:p.Arg495His
XM_006719056.3:c.1934G>A (A2M) XP_006719119.1:p.Arg645His
XM_017018683.1:c.*34-29756C>T (KLRG1) XP_016874172.1:n.*34-29756C>T
XM_017018684.1:c.*33+37452C>T (KLRG1) XP_016874173.1:n.*33+37452C>T
XM_017018685.1:c.*33+37452C>T (KLRG1) XP_016874174.1:n.*33+37452C>T
NM_000014.6:c.1934G>A (A2M) MANE Select NP_000005.3:p.Arg645His
NM_001347423.2:c.1934G>A (A2M) NP_001334352.2:p.Arg645His
NM_001347424.2:c.1634G>A (A2M) NP_001334353.2:p.Arg545His
NM_001347425.2:c.1484G>A (A2M) NP_001334354.2:p.Arg495His