Canonical Allele Identifier: CA15172943

Gene: ACYP2

Linked Data

• dbSNP Id: rs1682111
• gnomAD v2: 2-54427979-A-T
• gnomAD v3: 2-54200842-A-T
• gnomAD v4: 2-54200842-A-T
• MyVariant Identifiers: chr2:g.54427979A>T (hg19) ; chr2:g.54200842A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54200842A>T , CM000664.2:g.54200842A>T	GRCh38
NC_000002.11:g.54427979A>T , CM000664.1:g.54427979A>T	GRCh37
NC_000002.10:g.54281483A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000394666.9:c.185+62094A>T MANE Select	ENSP00000378161.3:n.185+62094A>T
ENST00000394666.8:c.185+62094A>T	ENSP00000378161.3:n.185+62094A>T
ENST00000607452.6:c.404+62094A>T	ENSP00000475986.1:n.404+62094A>T
ENST00000303536.8:c.269+62094A>T	ENSP00000306448.4:n.269+62094A>T
ENST00000394666.7:c.185+62094A>T	ENSP00000378161.3:n.185+62094A>T
ENST00000494922.6:c.179-22155A>T
ENST00000606865.1:c.137+62094A>T	ENSP00000475333.1:n.137+62094A>T
ENST00000607452.5:c.404+62094A>T	ENSP00000475986.1:n.404+62094A>T
NM_138448.3:c.185+62094A>T	NP_612457.1:n.185+62094A>T
NM_001320586.1:c.404+62094A>T	NP_001307515.1:n.404+62094A>T
NM_001320587.1:c.311+62094A>T	NP_001307516.1:n.311+62094A>T
NM_001320588.1:c.113+62094A>T	NP_001307517.1:n.113+62094A>T
NM_001320589.1:c.185+62094A>T	NP_001307518.1:n.185+62094A>T
XM_017005411.1:c.485+62094A>T	XP_016860900.1:n.485+62094A>T
XM_017005412.1:c.485+62094A>T	XP_016860901.1:n.485+62094A>T
XM_017005413.1:c.*22+53410A>T	XP_016860902.1:n.*22+53410A>T
XR_001739083.1:n.1006-22155A>T
NM_001320586.2:c.404+62094A>T	NP_001307515.1:n.404+62094A>T
NM_001320587.2:c.311+62094A>T	NP_001307516.1:n.311+62094A>T
NM_001320588.2:c.113+62094A>T	NP_001307517.1:n.113+62094A>T
NM_001320589.2:c.185+62094A>T	NP_001307518.1:n.185+62094A>T
NM_138448.4:c.185+62094A>T MANE Select	NP_612457.1:n.185+62094A>T