Canonical Allele Identifier: CA2617529486

Linked Data

gnomAD v4: 12-9090026-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9090026G>A , CM000674.2:g.9090026G>A GRCh38
NC_000012.11:g.9242622G>A , CM000674.1:g.9242622G>A GRCh37
NC_000012.10:g.9133889G>A NCBI36
NG_011717.1:g.30937C>T
NG_011717.2:g.30937C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2597-3C>T (A2M) MANE Select ENSP00000323929.8:n.2597-3C>T
ENST00000318602.11:c.2597-3C>T (A2M) ENSP00000323929.7:n.2597-3C>T
ENST00000462568.1:n.176-3C>T (A2M)
ENST00000543436.2:n.340-3C>T (A2M)
ENST00000545828.1:n.348+11524C>T (A2M)
NM_000014.4:c.2597-3C>T (A2M) NP_000005.2:n.2597-3C>T
XM_006719056.2:c.2597-3C>T (A2M) XP_006719119.1:n.2597-3C>T
NM_000014.5:c.2597-3C>T (A2M) NP_000005.2:n.2597-3C>T
NM_001347423.1:c.2597-3C>T (A2M) NP_001334352.1:n.2597-3C>T
NM_001347424.1:c.2297-3C>T (A2M) NP_001334353.1:n.2297-3C>T
NM_001347425.1:c.2147-3C>T (A2M) NP_001334354.1:n.2147-3C>T
XM_006719056.3:c.2597-3C>T (A2M) XP_006719119.1:n.2597-3C>T
XM_017018683.1:c.*33+31860G>A (KLRG1) XP_016874172.1:n.*33+31860G>A
XM_017018684.1:c.*33+31860G>A (KLRG1) XP_016874173.1:n.*33+31860G>A
XM_017018685.1:c.*33+31860G>A (KLRG1) XP_016874174.1:n.*33+31860G>A
NM_000014.6:c.2597-3C>T (A2M) MANE Select NP_000005.3:n.2597-3C>T
NM_001347423.2:c.2597-3C>T (A2M) NP_001334352.2:n.2597-3C>T
NM_001347424.2:c.2297-3C>T (A2M) NP_001334353.2:n.2297-3C>T
NM_001347425.2:c.2147-3C>T (A2M) NP_001334354.2:n.2147-3C>T