Canonical Allele Identifier: CA1619890774
Gene: COL11A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33165063C= , CM000668.2:g.33165063C= GRCh38
NC_000006.11:g.33132840C= , CM000668.1:g.33132840C= GRCh37
NC_000006.10:g.33240818C= NCBI36
NG_011589.1:g.32406G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683572.1:n.557-99G=
ENST00000341947.7:c.4751-99G= MANE Select ENSP00000339915.2:n.4751-99G=
ENST00000341947.6:c.4751-99G= ENSP00000339915.2:n.4751-99G=
ENST00000361917.5:c.4430-99G= ENSP00000355123.1:n.4430-99G=
ENST00000374708.8:c.4493-99G= ENSP00000363840.4:n.4493-99G=
ENST00000477772.1:n.541-99G=
NM_080679.2:c.4430-99G= NP_542410.2:n.4430-99G=
NM_080680.2:c.4751-99G= NP_542411.2:n.4751-99G=
NM_080681.2:c.4493-99G= NP_542412.2:n.4493-99G=
XM_011514298.1:c.3905-99G= XP_011512600.1:n.3905-99G=
XM_011514299.1:c.4037-99G= XP_011512601.1:n.4037-99G=
XM_011514300.1:c.3857-99G= XP_011512602.1:n.3857-99G=
XM_011514301.1:c.3794-99G= XP_011512603.1:n.3794-99G=
XM_011514302.1:c.3638-99G= XP_011512604.1:n.3638-99G=
XM_011514299.2:c.4037-99G= XP_011512601.1:n.4037-99G=
XM_011514300.2:c.3857-99G= XP_011512602.1:n.3857-99G=
XM_011514302.2:c.3638-99G= XP_011512604.1:n.3638-99G=
XM_017010250.1:c.4751-99G= XP_016865739.1:n.4751-99G=
XM_017010251.2:c.3569-99G= XP_016865740.1:n.3569-99G=
NM_080680.3:c.4751-99G= MANE Select NP_542411.2:n.4751-99G=
NM_080681.3:c.4493-99G= NP_542412.2:n.4493-99G=
NM_080679.3:c.4430-99G= NP_542410.2:n.4430-99G=