Canonical Allele Identifier: CA10071790
Gene: COL6A2 HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.46119119G>C
GRCh37 chr21:g.47539033G>C
gnomAD v2:
21:47539033 G / C
gnomAD v3:
21:46119119 G / C
gnomAD v4:
chr21-46119119-G-C
Joint Max Group AF 0.00026565 (AFR)
Genomes Max Group AF 0.00026088 (AFR)
Exomes Max Group AF 0.00018375 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46119119G>C , CM000683.2:g.46119119G>C GRCh38
NC_000021.8:g.47539033G>C , CM000683.1:g.47539033G>C GRCh37
NC_000021.7:g.46363461G>C NCBI36
NG_008675.1:g.26001G>C , LRG_476:g.26001G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1269G>C MANE Plus Clinical ENSP00000380870.1:p.Pro423=
ENST00000300527.9:c.1269G>C MANE Select ENSP00000300527.4:p.Pro423=
ENST00000409416.6:c.1269G>C ENSP00000387115.1:p.Pro423=
ENST00000300527.8:c.1269G>C ENSP00000300527.4:p.Pro423=
ENST00000310645.9:c.1269G>C ENSP00000312529.5:p.Pro423=
ENST00000397763.5:c.1269G>C ENSP00000380870.1:p.Pro423=
ENST00000409416.5:c.1269G>C ENSP00000387115.1:p.Pro423=
NM_001849.3:c.1269G>C , LRG_476t1:c.1269G>C NP_001840.3:p.Pro423=
NM_058174.2:c.1269G>C NP_478054.2:p.Pro423=
NM_058175.2:c.1269G>C NP_478055.2:p.Pro423=
XM_011529451.1:c.1269G>C XP_011527753.1:p.Pro423=
XM_011529452.1:c.1269G>C XP_011527754.1:p.Pro423=
XR_937438.1:n.1392G>C
XR_937439.1:n.1392G>C
XR_937438.2:n.1399G>C
XR_937439.2:n.1399G>C
NM_001849.4:c.1269G>C MANE Select NP_001840.3:p.Pro423=
NM_058174.3:c.1269G>C MANE Plus Clinical NP_478054.2:p.Pro423=
NM_058175.3:c.1269G>C NP_478055.2:p.Pro423=
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