Canonical Allele Identifier: CA252476

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 2856
• ClinVar RCV Id: RCV000002990 ; RCV003441701 ; RCV003988819
• dbSNP Id: rs28940568
• ExAC: 2:215843554 C / T
• gnomAD v2: 2-215843554-C-T
• gnomAD v3: 2-214978830-C-T
• gnomAD v4: 2-214978830-C-T
• MyVariant Identifiers: chr2:g.215843554C>T (hg19) ; chr2:g.214978830C>T (hg38)
• PubMed: PMID:10094194 ; PMID:12915478

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978830C>T , CM000664.2:g.214978830C>T	GRCh38
NC_000002.11:g.215843554C>T , CM000664.1:g.215843554C>T	GRCh37
NC_000002.10:g.215551799C>T	NCBI36
NG_007074.1:g.164598G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4951G>A MANE Select	ENSP00000272895.7:p.Gly1651Ser
ENST00000272895.11:c.4951G>A	ENSP00000272895.7:p.Gly1651Ser
ENST00000389661.4:c.3997G>A	ENSP00000374312.4:p.Gly1333Ser
NM_015657.3:c.3997G>A	NP_056472.2:p.Gly1333Ser
NM_173076.2:c.4951G>A	NP_775099.2:p.Gly1651Ser
NR_103740.1:n.5251G>A
XM_011510951.1:c.4960G>A	XP_011509253.1:p.Gly1654Ser
XM_011510952.1:c.4960G>A	XP_011509254.1:p.Gly1654Ser
XM_011510951.2:c.4960G>A	XP_011509253.1:p.Gly1654Ser
NM_173076.3:c.4951G>A MANE Select	NP_775099.2:p.Gly1651Ser
NR_103740.2:n.5449G>A
NM_015657.4:c.3997G>A	NP_056472.2:p.Gly1333Ser