Canonical Allele Identifier: CA764553716
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1358278210
MyVariant Identifiers: chr2:g.215876156T>C (hg19) chr2:g.215011432T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011432T>C , CM000664.2:g.215011432T>C GRCh38
NC_000002.11:g.215876156T>C , CM000664.1:g.215876156T>C GRCh37
NC_000002.10:g.215584401T>C NCBI36
NG_007074.1:g.131996A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2332+7A>G MANE Select ENSP00000272895.7:n.2332+7A>G
ENST00000272895.11:c.2332+7A>G ENSP00000272895.7:n.2332+7A>G
ENST00000389661.4:c.1378+7A>G ENSP00000374312.4:n.1378+7A>G
NM_015657.3:c.1378+7A>G NP_056472.2:n.1378+7A>G
NM_173076.2:c.2332+7A>G NP_775099.2:n.2332+7A>G
NR_103740.1:n.2576+7A>G
XM_011510951.1:c.2332+7A>G XP_011509253.1:n.2332+7A>G
XM_011510952.1:c.2332+7A>G XP_011509254.1:n.2332+7A>G
XM_011510951.2:c.2332+7A>G XP_011509253.1:n.2332+7A>G
NM_173076.3:c.2332+7A>G MANE Select NP_775099.2:n.2332+7A>G
NR_103740.2:n.2774+7A>G
NM_015657.4:c.1378+7A>G NP_056472.2:n.1378+7A>G
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