Canonical Allele Identifier: CA350447899

Gene: ABCA12

Linked Data

• dbSNP Id: rs908833428
• gnomAD v2: 2-215884466-A-C
• MyVariant Identifiers: chr2:g.215884466A>C (hg19) ; chr2:g.215019742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019742A>C , CM000664.2:g.215019742A>C	GRCh38
NC_000002.11:g.215884466A>C , CM000664.1:g.215884466A>C	GRCh37
NC_000002.10:g.215592711A>C	NCBI36
NG_007074.1:g.123686T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1342T>G MANE Select	ENSP00000272895.7:p.Leu448Val
ENST00000272895.11:c.1342T>G	ENSP00000272895.7:p.Leu448Val
ENST00000389661.4:c.388T>G	ENSP00000374312.4:p.Leu130Val
NM_015657.3:c.388T>G	NP_056472.2:p.Leu130Val
NM_173076.2:c.1342T>G	NP_775099.2:p.Leu448Val
NR_103740.1:n.1586T>G
XM_011510951.1:c.1342T>G	XP_011509253.1:p.Leu448Val
XM_011510952.1:c.1342T>G	XP_011509254.1:p.Leu448Val
XM_011510951.2:c.1342T>G	XP_011509253.1:p.Leu448Val
NM_173076.3:c.1342T>G MANE Select	NP_775099.2:p.Leu448Val
NR_103740.2:n.1784T>G
NM_015657.4:c.388T>G	NP_056472.2:p.Leu130Val