Canonical Allele Identifier: CA252475

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2855
• ClinVar RCV Id: RCV000002989 ; RCV000255645 ; RCV000763068
• dbSNP Id: rs28940269
• ExAC: 2:215851290 T / C
• gnomAD v2: 2-215851290-T-C
• gnomAD v3: 2-214986566-T-C
• gnomAD v4: 2-214986566-T-C
• MyVariant Identifiers: chr2:g.215851290T>C (hg19) ; chr2:g.214986566T>C (hg38)
• PubMed: PMID:8845852 ; PMID:10094194 ; PMID:12915478

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