Canonical Allele Identifier: CA127860
Community Standard Title: NM_000014.6(A2M):c.2915G>A (p.Cys972Tyr)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9079755C>T , CM000674.2:g.9079755C>T GRCh38
NC_000012.11:g.9232351C>T , CM000674.1:g.9232351C>T GRCh37
NC_000012.10:g.9123618C>T NCBI36
NG_011717.1:g.41208G>A
NG_011717.2:g.41208G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000014.6:c.2915G>A (A2M) MANE Select NP_000005.3:p.Cys972Tyr
ENST00000318602.12:c.2915G>A (A2M) MANE Select ENSP00000323929.8:p.Cys972Tyr
NM_000014.4:c.2915G>A (A2M) NP_000005.2:p.Cys972Tyr
NM_000014.5:c.2915G>A (A2M) NP_000005.2:p.Cys972Tyr
NM_001347423.1:c.2915G>A (A2M) NP_001334352.1:p.Cys972Tyr
NM_001347423.2:c.2915G>A (A2M) NP_001334352.2:p.Cys972Tyr
NM_001347424.1:c.2615G>A (A2M) NP_001334353.1:p.Cys872Tyr
NM_001347424.2:c.2615G>A (A2M) NP_001334353.2:p.Cys872Tyr
NM_001347425.1:c.2465G>A (A2M) NP_001334354.1:p.Cys822Tyr
NM_001347425.2:c.2465G>A (A2M) NP_001334354.2:p.Cys822Tyr
ENST00000318602.11:c.2915G>A (A2M) ENSP00000323929.7:p.Cys972Tyr
ENST00000542567.1:n.270G>A (A2M)
ENST00000543436.2:n.451+10157G>A (A2M)
ENST00000545828.1:n.349-7034G>A (A2M)
XM_006719056.2:c.2915G>A (A2M) XP_006719119.1:p.Cys972Tyr
XM_006719056.3:c.2915G>A (A2M) XP_006719119.1:p.Cys972Tyr
XM_017018683.1:c.*33+21589C>T (KLRG1) XP_016874172.1:n.*33+21589C>T
XM_017018684.1:c.*33+21589C>T (KLRG1) XP_016874173.1:n.*33+21589C>T
XM_017018685.1:c.*33+21589C>T (KLRG1) XP_016874174.1:n.*33+21589C>T