Canonical Allele Identifier: CA232700088

Linked Data

dbSNP Id: rs745610984
gnomAD v2: 12-9268803-G-T
gnomAD v3: 12-9116207-G-T
gnomAD v4: 12-9116207-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116207G>T , CM000674.2:g.9116207G>T GRCh38
NC_000012.11:g.9268803G>T , CM000674.1:g.9268803G>T GRCh37
NC_000012.10:g.9160070G>T NCBI36
NG_011717.1:g.4756C>A
NG_011717.2:g.4756C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000404455.2:c.-97C>A (A2M) ENSP00000385710.2:n.-97C>A
NM_000014.5:c.-358C>A (A2M) NP_000005.2:n.-358C>A
NM_001347423.1:c.-97C>A (A2M) NP_001334352.1:n.-97C>A
NM_001347424.1:c.-811C>A (A2M) NP_001334353.1:n.-811C>A
NM_001347425.1:c.-648C>A (A2M) NP_001334354.1:n.-648C>A
XM_017018683.1:c.*34-9167G>T (KLRG1) XP_016874172.1:n.*34-9167G>T
XM_017018684.1:c.*34-18879G>T (KLRG1) XP_016874173.1:n.*34-18879G>T
XM_017018685.1:c.*33+58041G>T (KLRG1) XP_016874174.1:n.*33+58041G>T
NM_001347423.2:c.-97C>A (A2M) NP_001334352.2:n.-97C>A