Canonical Allele Identifier: CA10614105

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 334274
• ClinVar RCV Id: RCV000397743 ; RCV003765944
• dbSNP Id: rs757610542
• gnomAD v2: 2-215901782-G-C
• gnomAD v3: 2-215037058-G-C
• gnomAD v4: 2-215037058-G-C
• MyVariant Identifiers: chr2:g.215901782G>C (hg19) ; chr2:g.215037058G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215037058G>C , CM000664.2:g.215037058G>C	GRCh38
NC_000002.11:g.215901782G>C , CM000664.1:g.215901782G>C	GRCh37
NC_000002.10:g.215610027G>C	NCBI36
NG_007074.1:g.106370C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.880C>G MANE Select	ENSP00000272895.7:p.Leu294Val
ENST00000272895.11:c.880C>G	ENSP00000272895.7:p.Leu294Val
NM_173076.2:c.880C>G	NP_775099.2:p.Leu294Val
NR_103740.1:n.1124C>G
XM_011510951.1:c.880C>G	XP_011509253.1:p.Leu294Val
XM_011510952.1:c.880C>G	XP_011509254.1:p.Leu294Val
XM_011510951.2:c.880C>G	XP_011509253.1:p.Leu294Val
NM_173076.3:c.880C>G MANE Select	NP_775099.2:p.Leu294Val
NR_103740.2:n.1322C>G