Canonical Allele Identifier: CA2092251

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 334268
• ClinVar RCV Id: RCV000321224 ; RCV000658898
• dbSNP Id: rs149243979
• ExAC: 2:215884512 T / C
• gnomAD v2: 2-215884512-T-C
• gnomAD v3: 2-215019788-T-C
• gnomAD v4: 2-215019788-T-C
• MyVariant Identifiers: chr2:g.215884512T>C (hg19) ; chr2:g.215019788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019788T>C , CM000664.2:g.215019788T>C	GRCh38
NC_000002.11:g.215884512T>C , CM000664.1:g.215884512T>C	GRCh37
NC_000002.10:g.215592757T>C	NCBI36
NG_007074.1:g.123640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1296A>G MANE Select	ENSP00000272895.7:p.Gln432=
ENST00000272895.11:c.1296A>G	ENSP00000272895.7:p.Gln432=
ENST00000389661.4:c.342A>G	ENSP00000374312.4:p.Gln114=
NM_015657.3:c.342A>G	NP_056472.2:p.Gln114=
NM_173076.2:c.1296A>G	NP_775099.2:p.Gln432=
NR_103740.1:n.1540A>G
XM_011510951.1:c.1296A>G	XP_011509253.1:p.Gln432=
XM_011510952.1:c.1296A>G	XP_011509254.1:p.Gln432=
XM_011510951.2:c.1296A>G	XP_011509253.1:p.Gln432=
NM_173076.3:c.1296A>G MANE Select	NP_775099.2:p.Gln432=
NR_103740.2:n.1738A>G
NM_015657.4:c.342A>G	NP_056472.2:p.Gln114=