Canonical Allele Identifier: CA350793629

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215809761A>G (hg19) ; chr2:g.214945037A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214945037A>G , CM000664.2:g.214945037A>G	GRCh38
NC_000002.11:g.215809761A>G , CM000664.1:g.215809761A>G	GRCh37
NC_000002.10:g.215518006A>G	NCBI36
NG_007074.1:g.198391T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7307T>C (ABCA12) MANE Select	ENSP00000272895.7:p.Val2436Ala
ENST00000272895.11:c.7307T>C (ABCA12)	ENSP00000272895.7:p.Val2436Ala
ENST00000389661.4:c.6353T>C (ABCA12)	ENSP00000374312.4:p.Val2118Ala
NM_015657.3:c.6353T>C (ABCA12)	NP_056472.2:p.Val2118Ala
NM_173076.2:c.7307T>C (ABCA12)	NP_775099.2:p.Val2436Ala
NR_103740.1:n.7607T>C (ABCA12)
NR_110292.1:n.322-2788A>G (SNHG31)
XM_011510951.1:c.7316T>C (ABCA12)	XP_011509253.1:p.Val2439Ala
XM_011510951.2:c.7316T>C (ABCA12)	XP_011509253.1:p.Val2439Ala
NM_173076.3:c.7307T>C (ABCA12) MANE Select	NP_775099.2:p.Val2436Ala
NR_103740.2:n.7805T>C (ABCA12)
NM_015657.4:c.6353T>C (ABCA12)	NP_056472.2:p.Val2118Ala