Canonical Allele Identifier: CA252475
Gene: ABCA12 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.214986566T>C
GRCh37 chr2:g.215851290T>C
Revel Score:
ENST00000272895 (MANE Select) 0.827
ENST00000389661 0.827
gnomAD v2:
2:215851290 T / C
gnomAD v3:
2:214986566 T / C
gnomAD v4:
chr2-214986566-T-C
Joint Max Group AF 0.0000315 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003085 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214986566T>C , CM000664.2:g.214986566T>C GRCh38
NC_000002.11:g.215851290T>C , CM000664.1:g.215851290T>C GRCh37
NC_000002.10:g.215559535T>C NCBI36
NG_007074.1:g.156862A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4139A>G MANE Select ENSP00000272895.7:p.Asn1380Ser
ENST00000272895.11:c.4139A>G ENSP00000272895.7:p.Asn1380Ser
ENST00000389661.4:c.3185A>G ENSP00000374312.4:p.Asn1062Ser
NM_015657.3:c.3185A>G NP_056472.2:p.Asn1062Ser
NM_173076.2:c.4139A>G NP_775099.2:p.Asn1380Ser
NR_103740.1:n.4439A>G
XM_011510951.1:c.4148A>G XP_011509253.1:p.Asn1383Ser
XM_011510952.1:c.4148A>G XP_011509254.1:p.Asn1383Ser
XM_011510951.2:c.4148A>G XP_011509253.1:p.Asn1383Ser
NM_173076.3:c.4139A>G MANE Select NP_775099.2:p.Asn1380Ser
NR_103740.2:n.4637A>G
NM_015657.4:c.3185A>G NP_056472.2:p.Asn1062Ser
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