Canonical Allele Identifier: CA539837728

Gene: ABCA12

Linked Data

• dbSNP Id: rs1206393456
• gnomAD v2: 2-215876592-T-TG
• gnomAD v3: 2-215011868-T-TG
• gnomAD v4: 2-215011868-T-TG
• MyVariant Identifiers: chr2:g.215876592_215876593insG (hg19) ; chr2:g.215011868_215011869insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011868_215011869insG , CM000664.2:g.215011868_215011869insG	GRCh38
NC_000002.11:g.215876592_215876593insG , CM000664.1:g.215876592_215876593insG	GRCh37
NC_000002.10:g.215584837_215584838insG	NCBI36
NG_007074.1:g.131559_131560insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+102_2121+103insC MANE Select	ENSP00000272895.7:n.2121+102_2121+103insC
ENST00000272895.11:c.2121+102_2121+103insC	ENSP00000272895.7:n.2121+102_2121+103insC
ENST00000389661.4:c.1167+102_1167+103insC	ENSP00000374312.4:n.1167+102_1167+103insC
NM_015657.3:c.1167+102_1167+103insC	NP_056472.2:n.1167+102_1167+103insC
NM_173076.2:c.2121+102_2121+103insC	NP_775099.2:n.2121+102_2121+103insC
NR_103740.1:n.2365+102_2365+103insC
XM_011510951.1:c.2121+102_2121+103insC	XP_011509253.1:n.2121+102_2121+103insC
XM_011510952.1:c.2121+102_2121+103insC	XP_011509254.1:n.2121+102_2121+103insC
XM_011510951.2:c.2121+102_2121+103insC	XP_011509253.1:n.2121+102_2121+103insC
NM_173076.3:c.2121+102_2121+103insC MANE Select	NP_775099.2:n.2121+102_2121+103insC
NR_103740.2:n.2563+102_2563+103insC
NM_015657.4:c.1167+102_1167+103insC	NP_056472.2:n.1167+102_1167+103insC