Canonical Allele Identifier: CA104812697

Gene: AFG2A

Linked Data

• dbSNP Id: rs375260257
• gnomAD v2: 4-123855225-A-C
• gnomAD v4: 4-122934070-A-C
• MyVariant Identifiers: chr4:g.123855225A>C (hg19) ; chr4:g.122934070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122934070A>C , CM000666.2:g.122934070A>C	GRCh38
NC_000004.11:g.123855225A>C , CM000666.1:g.123855225A>C	GRCh37
NC_000004.10:g.124074675A>C	NCBI36
NG_051570.1:g.16001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.506-27A>C MANE Select	ENSP00000274008.3:n.506-27A>C
ENST00000674886.1:n.568-27A>C
ENST00000675392.1:n.80-27A>C
ENST00000675612.1:c.503-27A>C	ENSP00000502453.1:n.503-27A>C
ENST00000274008.4:c.506-27A>C	ENSP00000274008.3:n.506-27A>C
ENST00000422835.2:n.548-27A>C
NM_145207.2:c.506-27A>C	NP_660208.2:n.506-27A>C
XM_005262783.3:c.503-27A>C	XP_005262840.1:n.503-27A>C
XM_011531678.1:c.503-27A>C	XP_011529980.1:n.503-27A>C
XM_011531679.1:c.506-27A>C	XP_011529981.1:n.506-27A>C
NM_001317799.1:c.503-27A>C	NP_001304728.1:n.503-27A>C
NM_001345856.1:c.503-27A>C	NP_001332785.1:n.503-27A>C
XM_011531678.2:c.503-27A>C	XP_011529980.1:n.503-27A>C
XM_011531679.3:c.506-27A>C	XP_011529981.1:n.506-27A>C
XM_017007825.1:c.506-27A>C	XP_016863314.1:n.506-27A>C
XM_017007826.1:c.506-27A>C	XP_016863315.1:n.506-27A>C
XM_017007827.2:c.506-27A>C	XP_016863316.1:n.506-27A>C
XM_017007828.1:c.284-27A>C	XP_016863317.1:n.284-27A>C
XM_017007829.1:c.50-27A>C	XP_016863318.1:n.50-27A>C
XM_017007830.1:c.506-27A>C	XP_016863319.1:n.506-27A>C
XR_001741151.1:n.576-27A>C
NM_145207.3:c.506-27A>C MANE Select	NP_660208.2:n.506-27A>C
NM_001317799.2:c.503-27A>C	NP_001304728.1:n.503-27A>C
NM_001345856.2:c.503-27A>C	NP_001332785.1:n.503-27A>C