Canonical Allele Identifier: CA449867022
Gene: COL11A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.33132179G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33164402G>C , CM000668.2:g.33164402G>C GRCh38
NC_000006.11:g.33132179G>C , CM000668.1:g.33132179G>C GRCh37
NC_000006.10:g.33240157G>C NCBI36
NG_011589.1:g.33067C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.741C>G
ENST00000341947.7:c.4935C>G MANE Select ENSP00000339915.2:p.Val1645=
ENST00000341947.6:c.4935C>G ENSP00000339915.2:p.Val1645=
ENST00000361917.5:c.4614C>G ENSP00000355123.1:p.Val1538=
ENST00000374708.8:c.4677C>G ENSP00000363840.4:p.Val1559=
ENST00000477772.1:n.725C>G
NM_080679.2:c.4614C>G NP_542410.2:p.Val1538=
NM_080680.2:c.4935C>G NP_542411.2:p.Val1645=
NM_080681.2:c.4677C>G NP_542412.2:p.Val1559=
XM_011514298.1:c.4089C>G XP_011512600.1:p.Val1363=
XM_011514299.1:c.4221C>G XP_011512601.1:p.Val1407=
XM_011514300.1:c.4041C>G XP_011512602.1:p.Val1347=
XM_011514301.1:c.3978C>G XP_011512603.1:p.Val1326=
XM_011514302.1:c.3822C>G XP_011512604.1:p.Val1274=
XM_011514299.2:c.4221C>G XP_011512601.1:p.Val1407=
XM_011514300.2:c.4041C>G XP_011512602.1:p.Val1347=
XM_011514302.2:c.3822C>G XP_011512604.1:p.Val1274=
XM_017010250.1:c.4935C>G XP_016865739.1:p.Val1645=
XM_017010251.2:c.3753C>G XP_016865740.1:p.Val1251=
NM_080680.3:c.4935C>G MANE Select NP_542411.2:p.Val1645=
NM_080681.3:c.4677C>G NP_542412.2:p.Val1559=
NM_080679.3:c.4614C>G NP_542410.2:p.Val1538=