Canonical Allele Identifier: CA2091409

Gene: ABCA12

Linked Data

• dbSNP Id: rs747853247
• ExAC: 2:215845227 G / A
• gnomAD v2: 2-215845227-G-A
• gnomAD v4: 2-214980503-G-A
• MyVariant Identifiers: chr2:g.215845227G>A (hg19) ; chr2:g.214980503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980503G>A , CM000664.2:g.214980503G>A	GRCh38
NC_000002.11:g.215845227G>A , CM000664.1:g.215845227G>A	GRCh37
NC_000002.10:g.215553472G>A	NCBI36
NG_007074.1:g.162925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4720C>T MANE Select	ENSP00000272895.7:p.Leu1574Phe
ENST00000272895.11:c.4720C>T	ENSP00000272895.7:p.Leu1574Phe
ENST00000389661.4:c.3766C>T	ENSP00000374312.4:p.Leu1256Phe
NM_015657.3:c.3766C>T	NP_056472.2:p.Leu1256Phe
NM_173076.2:c.4720C>T	NP_775099.2:p.Leu1574Phe
NR_103740.1:n.5020C>T
XM_011510951.1:c.4729C>T	XP_011509253.1:p.Leu1577Phe
XM_011510952.1:c.4729C>T	XP_011509254.1:p.Leu1577Phe
XM_011510951.2:c.4729C>T	XP_011509253.1:p.Leu1577Phe
NM_173076.3:c.4720C>T MANE Select	NP_775099.2:p.Leu1574Phe
NR_103740.2:n.5218C>T
NM_015657.4:c.3766C>T	NP_056472.2:p.Leu1256Phe