Canonical Allele Identifier: CA10072458
Gene: COL6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46125986G>T
GRCh37 chr21:g.47545900G>T
Revel Score:
ENST00000300527 (MANE Select) 0.436
ENST00000357838 0.436
ENST00000310645 0.436
ENST00000409416 0.436
ENST00000397763 (MANE Plus Clinical) 0.436
gnomAD v2:
21:47545900 G / T
gnomAD v3:
21:46125986 G / T
gnomAD v4:
chr21-46125986-G-T
Joint Max Group AF 0.00013403 (MID)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00014138 (MID)
ClinVar RCV:
RCV000397775
RCV000685619
ClinVar Variation:
288448
dbSNP:
145450812
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125986G>T , CM000683.2:g.46125986G>T GRCh38
NC_000021.8:g.47545900G>T , CM000683.1:g.47545900G>T GRCh37
NC_000021.7:g.46370328G>T NCBI36
NG_008675.1:g.32868G>T , LRG_476:g.32868G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.2171G>T MANE Plus Clinical ENSP00000380870.1:p.Arg724Leu
ENST00000300527.9:c.2171G>T MANE Select ENSP00000300527.4:p.Arg724Leu
ENST00000409416.6:c.2171G>T ENSP00000387115.1:p.Arg724Leu
ENST00000300527.8:c.2171G>T ENSP00000300527.4:p.Arg724Leu
ENST00000310645.9:c.2171G>T ENSP00000312529.5:p.Arg724Leu
ENST00000397763.5:c.2171G>T ENSP00000380870.1:p.Arg724Leu
ENST00000409416.5:c.2171G>T ENSP00000387115.1:p.Arg724Leu
NM_001849.3:c.2171G>T , LRG_476t1:c.2171G>T NP_001840.3:p.Arg724Leu
NM_058174.2:c.2171G>T NP_478054.2:p.Arg724Leu
NM_058175.2:c.2171G>T NP_478055.2:p.Arg724Leu
XM_011529451.1:c.2171G>T XP_011527753.1:p.Arg724Leu
XM_011529452.1:c.2171G>T XP_011527754.1:p.Arg724Leu
XR_937438.1:n.2248G>T
XR_937439.1:n.2248G>T
XR_937438.2:n.2255G>T
XR_937439.2:n.2255G>T
NM_001849.4:c.2171G>T MANE Select NP_001840.3:p.Arg724Leu
NM_058174.3:c.2171G>T MANE Plus Clinical NP_478054.2:p.Arg724Leu
NM_058175.3:c.2171G>T NP_478055.2:p.Arg724Leu
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