Canonical Allele Identifier: CA2092217
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 334263
ClinVar RCV Id: RCV000370841 RCV003727693
dbSNP Id: rs775951517
ExAC: 2:215884293 A / C
gnomAD v2: 2-215884293-A-C
gnomAD v3: 2-215019569-A-C
gnomAD v4: 2-215019569-A-C
MyVariant Identifiers: chr2:g.215884293A>C (hg19) chr2:g.215019569A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019569A>C , CM000664.2:g.215019569A>C GRCh38
NC_000002.11:g.215884293A>C , CM000664.1:g.215884293A>C GRCh37
NC_000002.10:g.215592538A>C NCBI36
NG_007074.1:g.123859T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1515T>G MANE Select ENSP00000272895.7:p.Asp505Glu
ENST00000272895.11:c.1515T>G ENSP00000272895.7:p.Asp505Glu
ENST00000389661.4:c.561T>G ENSP00000374312.4:p.Asp187Glu
NM_015657.3:c.561T>G NP_056472.2:p.Asp187Glu
NM_173076.2:c.1515T>G NP_775099.2:p.Asp505Glu
NR_103740.1:n.1759T>G
XM_011510951.1:c.1515T>G XP_011509253.1:p.Asp505Glu
XM_011510952.1:c.1515T>G XP_011509254.1:p.Asp505Glu
XM_011510951.2:c.1515T>G XP_011509253.1:p.Asp505Glu
NM_173076.3:c.1515T>G MANE Select NP_775099.2:p.Asp505Glu
NR_103740.2:n.1957T>G
NM_015657.4:c.561T>G NP_056472.2:p.Asp187Glu
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