Canonical Allele Identifier: CA2617534590

Linked Data

gnomAD v4: 12-9115978-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115978C>A , CM000674.2:g.9115978C>A GRCh38
NC_000012.11:g.9268574C>A , CM000674.1:g.9268574C>A GRCh37
NC_000012.10:g.9159841C>A NCBI36
NG_011717.1:g.4985G>T
NG_011717.2:g.4985G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-129G>T (A2M) ENSP00000323929.7:n.-129G>T
ENST00000404455.2:c.-17-112G>T (A2M) ENSP00000385710.2:n.-17-112G>T
ENST00000467091.1:n.84G>T (A2M)
ENST00000497324.1:n.40G>T (A2M)
NM_000014.5:c.-129G>T (A2M) NP_000005.2:n.-129G>T
NM_001347423.1:c.-17-112G>T (A2M) NP_001334352.1:n.-17-112G>T
NM_001347424.1:c.-582G>T (A2M) NP_001334353.1:n.-582G>T
NM_001347425.1:c.-419G>T (A2M) NP_001334354.1:n.-419G>T
XM_017018683.1:c.*34-9396C>A (KLRG1) XP_016874172.1:n.*34-9396C>A
XM_017018684.1:c.*34-19108C>A (KLRG1) XP_016874173.1:n.*34-19108C>A
XM_017018685.1:c.*33+57812C>A (KLRG1) XP_016874174.1:n.*33+57812C>A
NM_001347423.2:c.-17-112G>T (A2M) NP_001334352.2:n.-17-112G>T