Canonical Allele Identifier: CA2091434
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.214980622G>A
GRCh37 chr2:g.215845346G>A
Revel Score:
ENST00000272895 (MANE Select) 0.895
ENST00000389661 0.895
gnomAD v2:
2:215845346 G / A
gnomAD v3:
2:214980622 G / A
gnomAD v4:
chr2-214980622-G-A
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV005018466
ClinVar Variation:
3585390
dbSNP:
200407397
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980622G>A , CM000664.2:g.214980622G>A GRCh38
NC_000002.11:g.215845346G>A , CM000664.1:g.215845346G>A GRCh37
NC_000002.10:g.215553591G>A NCBI36
NG_007074.1:g.162806C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4601C>T MANE Select ENSP00000272895.7:p.Thr1534Met
ENST00000272895.11:c.4601C>T ENSP00000272895.7:p.Thr1534Met
ENST00000389661.4:c.3647C>T ENSP00000374312.4:p.Thr1216Met
NM_015657.3:c.3647C>T NP_056472.2:p.Thr1216Met
NM_173076.2:c.4601C>T NP_775099.2:p.Thr1534Met
NR_103740.1:n.4901C>T
XM_011510951.1:c.4610C>T XP_011509253.1:p.Thr1537Met
XM_011510952.1:c.4610C>T XP_011509254.1:p.Thr1537Met
XM_011510951.2:c.4610C>T XP_011509253.1:p.Thr1537Met
NM_173076.3:c.4601C>T MANE Select NP_775099.2:p.Thr1534Met
NR_103740.2:n.5099C>T
NM_015657.4:c.3647C>T NP_056472.2:p.Thr1216Met
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