Canonical Allele Identifier: CA350446043

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818618A>T (hg19) ; chr2:g.214953894A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214953894A>T , CM000664.2:g.214953894A>T	GRCh38
NC_000002.11:g.215818618A>T , CM000664.1:g.215818618A>T	GRCh37
NC_000002.10:g.215526863A>T	NCBI36
NG_007074.1:g.189534T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.6607T>A (ABCA12) MANE Select	ENSP00000272895.7:p.Leu2203Met
ENST00000272895.11:c.6607T>A (ABCA12)	ENSP00000272895.7:p.Leu2203Met
ENST00000389661.4:c.5653T>A (ABCA12)	ENSP00000374312.4:p.Leu1885Met
NM_015657.3:c.5653T>A (ABCA12)	NP_056472.2:p.Leu1885Met
NM_173076.2:c.6607T>A (ABCA12)	NP_775099.2:p.Leu2203Met
NR_103740.1:n.6907T>A (ABCA12)
NR_110292.1:n.444+5947A>T (SNHG31)
XM_011510951.1:c.6616T>A (ABCA12)	XP_011509253.1:p.Leu2206Met
XM_011510951.2:c.6616T>A (ABCA12)	XP_011509253.1:p.Leu2206Met
NM_173076.3:c.6607T>A (ABCA12) MANE Select	NP_775099.2:p.Leu2203Met
NR_103740.2:n.7105T>A (ABCA12)
NM_015657.4:c.5653T>A (ABCA12)	NP_056472.2:p.Leu1885Met