Canonical Allele Identifier: CA350460796

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980521-A-G
• MyVariant Identifiers: chr2:g.215845245A>G (hg19) ; chr2:g.214980521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980521A>G , CM000664.2:g.214980521A>G	GRCh38
NC_000002.11:g.215845245A>G , CM000664.1:g.215845245A>G	GRCh37
NC_000002.10:g.215553490A>G	NCBI36
NG_007074.1:g.162907T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4702T>C MANE Select	ENSP00000272895.7:p.Phe1568Leu
ENST00000272895.11:c.4702T>C	ENSP00000272895.7:p.Phe1568Leu
ENST00000389661.4:c.3748T>C	ENSP00000374312.4:p.Phe1250Leu
NM_015657.3:c.3748T>C	NP_056472.2:p.Phe1250Leu
NM_173076.2:c.4702T>C	NP_775099.2:p.Phe1568Leu
NR_103740.1:n.5002T>C
XM_011510951.1:c.4711T>C	XP_011509253.1:p.Phe1571Leu
XM_011510952.1:c.4711T>C	XP_011509254.1:p.Phe1571Leu
XM_011510951.2:c.4711T>C	XP_011509253.1:p.Phe1571Leu
NM_173076.3:c.4702T>C MANE Select	NP_775099.2:p.Phe1568Leu
NR_103740.2:n.5200T>C
NM_015657.4:c.3748T>C	NP_056472.2:p.Phe1250Leu