Canonical Allele Identifier: CA1321339942
Gene: KIAA2012 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202085128G>C , CM000664.2:g.202085128G>C GRCh38
NC_000002.11:g.202949851G>C , CM000664.1:g.202949851G>C GRCh37
NC_000002.10:g.202658096G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000498697.3:c.370-5642G>C MANE Select ENSP00000419834.2:n.370-5642G>C
ENST00000409515.3:n.709-5642G>C
ENST00000459709.5:n.877-5642G>C
ENST00000541917.5:c.370-5642G>C ENSP00000437957.2:n.370-5642G>C
NM_001277372.1:c.370-5642G>C NP_001264301.1:n.370-5642G>C
XM_006712171.1:c.370-5642G>C XP_006712234.1:n.370-5642G>C
XM_006712172.1:c.370-5642G>C XP_006712235.1:n.370-5642G>C
XM_011510467.1:c.370-5642G>C XP_011508769.1:n.370-5642G>C
XM_011510468.1:c.370-5642G>C XP_011508770.1:n.370-5642G>C
XR_923794.1:n.85-9562C>G
XR_923795.1:n.614-9562C>G
NM_001277372.2:c.370-5642G>C NP_001264301.2:n.370-5642G>C
XM_006712172.3:c.370-5642G>C XP_006712235.1:n.370-5642G>C
XM_017003111.2:c.370-5642G>C XP_016858600.1:n.370-5642G>C
XM_017003112.2:c.370-5642G>C XP_016858601.1:n.370-5642G>C
NM_001277372.4:c.370-5642G>C MANE Select NP_001264301.2:n.370-5642G>C
NM_001367720.2:c.370-5642G>C NP_001354649.1:n.370-5642G>C