Canonical Allele Identifier: CA105295660

Gene: AFG2A

Linked Data

• dbSNP Id: rs939191229
• gnomAD v3: 4-123313819-T-C
• gnomAD v4: 4-123313819-T-C
• MyVariant Identifiers: chr4:g.124234974T>C (hg19) ; chr4:g.123313819T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.123313819T>C , CM000666.2:g.123313819T>C	GRCh38
NC_000004.11:g.124234974T>C , CM000666.1:g.124234974T>C	GRCh37
NC_000004.10:g.124454424T>C	NCBI36
NG_051570.1:g.395750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.2506-69T>C MANE Select	ENSP00000274008.3:n.2506-69T>C
ENST00000675612.1:c.2575-69T>C	ENSP00000502453.1:n.2575-69T>C
ENST00000274008.4:c.2506-69T>C	ENSP00000274008.3:n.2506-69T>C
NM_145207.2:c.2506-69T>C	NP_660208.2:n.2506-69T>C
XM_005262783.3:c.2503-69T>C	XP_005262840.1:n.2503-69T>C
XM_011531678.1:c.2575-69T>C	XP_011529980.1:n.2575-69T>C
NM_001345856.1:c.2503-69T>C	NP_001332785.1:n.2503-69T>C
XM_011531678.2:c.2575-69T>C	XP_011529980.1:n.2575-69T>C
XM_017007825.1:c.2578-69T>C	XP_016863314.1:n.2578-69T>C
XM_017007828.1:c.2284-69T>C	XP_016863317.1:n.2284-69T>C
XM_017007829.1:c.2122-69T>C	XP_016863318.1:n.2122-69T>C
XR_001741151.1:n.2664-69T>C
NM_145207.3:c.2506-69T>C MANE Select	NP_660208.2:n.2506-69T>C
NM_001345856.2:c.2503-69T>C	NP_001332785.1:n.2503-69T>C