Canonical Allele Identifier: CA350447489

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 3081746
• ClinVar RCV Id: RCV004371102
• dbSNP Id: rs1700579943
• MyVariant Identifiers: chr2:g.215884310C>A (hg19) ; chr2:g.215019586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019586C>A , CM000664.2:g.215019586C>A	GRCh38
NC_000002.11:g.215884310C>A , CM000664.1:g.215884310C>A	GRCh37
NC_000002.10:g.215592555C>A	NCBI36
NG_007074.1:g.123842G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1498G>T MANE Select	ENSP00000272895.7:p.Asp500Tyr
ENST00000272895.11:c.1498G>T	ENSP00000272895.7:p.Asp500Tyr
ENST00000389661.4:c.544G>T	ENSP00000374312.4:p.Asp182Tyr
NM_015657.3:c.544G>T	NP_056472.2:p.Asp182Tyr
NM_173076.2:c.1498G>T	NP_775099.2:p.Asp500Tyr
NR_103740.1:n.1742G>T
XM_011510951.1:c.1498G>T	XP_011509253.1:p.Asp500Tyr
XM_011510952.1:c.1498G>T	XP_011509254.1:p.Asp500Tyr
XM_011510951.2:c.1498G>T	XP_011509253.1:p.Asp500Tyr
NM_173076.3:c.1498G>T MANE Select	NP_775099.2:p.Asp500Tyr
NR_103740.2:n.1940G>T
NM_015657.4:c.544G>T	NP_056472.2:p.Asp182Tyr