Canonical Allele Identifier: CA2091432
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2338490
ClinVar RCV Id: RCV002944802
dbSNP Id: rs771394858
ExAC: 2:215845329 C / A
gnomAD v2: 2-215845329-C-A
gnomAD v3: 2-214980605-C-A
gnomAD v4: 2-214980605-C-A
MyVariant Identifiers: chr2:g.215845329C>A (hg19) chr2:g.214980605C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980605C>A , CM000664.2:g.214980605C>A GRCh38
NC_000002.11:g.215845329C>A , CM000664.1:g.215845329C>A GRCh37
NC_000002.10:g.215553574C>A NCBI36
NG_007074.1:g.162823G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4618G>T MANE Select ENSP00000272895.7:p.Ala1540Ser
ENST00000272895.11:c.4618G>T ENSP00000272895.7:p.Ala1540Ser
ENST00000389661.4:c.3664G>T ENSP00000374312.4:p.Ala1222Ser
NM_015657.3:c.3664G>T NP_056472.2:p.Ala1222Ser
NM_173076.2:c.4618G>T NP_775099.2:p.Ala1540Ser
NR_103740.1:n.4918G>T
XM_011510951.1:c.4627G>T XP_011509253.1:p.Ala1543Ser
XM_011510952.1:c.4627G>T XP_011509254.1:p.Ala1543Ser
XM_011510951.2:c.4627G>T XP_011509253.1:p.Ala1543Ser
NM_173076.3:c.4618G>T MANE Select NP_775099.2:p.Ala1540Ser
NR_103740.2:n.5116G>T
NM_015657.4:c.3664G>T NP_056472.2:p.Ala1222Ser
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