Canonical Allele Identifier: CA539837552

Gene: ABCA12

Linked Data

• dbSNP Id: rs1199835784
• gnomAD v2: 2-215843480-C-T
• gnomAD v4: 2-214978756-C-T
• MyVariant Identifiers: chr2:g.215843480C>T (hg19) ; chr2:g.214978756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978756C>T , CM000664.2:g.214978756C>T	GRCh38
NC_000002.11:g.215843480C>T , CM000664.1:g.215843480C>T	GRCh37
NC_000002.10:g.215551725C>T	NCBI36
NG_007074.1:g.164672G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4977+48G>A MANE Select	ENSP00000272895.7:n.4977+48G>A
ENST00000272895.11:c.4977+48G>A	ENSP00000272895.7:n.4977+48G>A
ENST00000389661.4:c.4023+48G>A	ENSP00000374312.4:n.4023+48G>A
NM_015657.3:c.4023+48G>A	NP_056472.2:n.4023+48G>A
NM_173076.2:c.4977+48G>A	NP_775099.2:n.4977+48G>A
NR_103740.1:n.5277+48G>A
XM_011510951.1:c.4986+48G>A	XP_011509253.1:n.4986+48G>A
XM_011510952.1:c.4986+48G>A	XP_011509254.1:n.4986+48G>A
XM_011510951.2:c.4986+48G>A	XP_011509253.1:n.4986+48G>A
NM_173076.3:c.4977+48G>A MANE Select	NP_775099.2:n.4977+48G>A
NR_103740.2:n.5475+48G>A
NM_015657.4:c.4023+48G>A	NP_056472.2:n.4023+48G>A