Canonical Allele Identifier: CA350792358

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215797389A>G (hg19) ; chr2:g.214932665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932665A>G , CM000664.2:g.214932665A>G	GRCh38
NC_000002.11:g.215797389A>G , CM000664.1:g.215797389A>G	GRCh37
NC_000002.10:g.215505634A>G	NCBI36
NG_007074.1:g.210763T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7757T>C (ABCA12) MANE Select	ENSP00000272895.7:p.Val2586Ala
ENST00000272895.11:c.7757T>C (ABCA12)	ENSP00000272895.7:p.Val2586Ala
ENST00000389661.4:c.6803T>C (ABCA12)	ENSP00000374312.4:p.Val2268Ala
NM_015657.3:c.6803T>C (ABCA12)	NP_056472.2:p.Val2268Ala
NM_173076.2:c.7757T>C (ABCA12)	NP_775099.2:p.Val2586Ala
NR_103740.1:n.8057T>C (ABCA12)
NR_110292.1:n.322-15160A>G (SNHG31)
XM_011510951.1:c.7766T>C (ABCA12)	XP_011509253.1:p.Val2589Ala
XM_011510951.2:c.7766T>C (ABCA12)	XP_011509253.1:p.Val2589Ala
NM_173076.3:c.7757T>C (ABCA12) MANE Select	NP_775099.2:p.Val2586Ala
NR_103740.2:n.8255T>C (ABCA12)
NM_015657.4:c.6803T>C (ABCA12)	NP_056472.2:p.Val2268Ala