Canonical Allele Identifier: CA2092220
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2992731
ClinVar RCV Id: RCV003857842
dbSNP Id: rs751992778
ExAC: 2:215884302 C / T
gnomAD v2: 2-215884302-C-T
gnomAD v3: 2-215019578-C-T
gnomAD v4: 2-215019578-C-T
MyVariant Identifiers: chr2:g.215884302C>T (hg19) chr2:g.215019578C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019578C>T , CM000664.2:g.215019578C>T GRCh38
NC_000002.11:g.215884302C>T , CM000664.1:g.215884302C>T GRCh37
NC_000002.10:g.215592547C>T NCBI36
NG_007074.1:g.123850G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1506G>A MANE Select ENSP00000272895.7:p.Leu502=
ENST00000272895.11:c.1506G>A ENSP00000272895.7:p.Leu502=
ENST00000389661.4:c.552G>A ENSP00000374312.4:p.Leu184=
NM_015657.3:c.552G>A NP_056472.2:p.Leu184=
NM_173076.2:c.1506G>A NP_775099.2:p.Leu502=
NR_103740.1:n.1750G>A
XM_011510951.1:c.1506G>A XP_011509253.1:p.Leu502=
XM_011510952.1:c.1506G>A XP_011509254.1:p.Leu502=
XM_011510951.2:c.1506G>A XP_011509253.1:p.Leu502=
NM_173076.3:c.1506G>A MANE Select NP_775099.2:p.Leu502=
NR_103740.2:n.1948G>A
NM_015657.4:c.552G>A NP_056472.2:p.Leu184=
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