Canonical Allele Identifier: CA2728964829
Gene: COL4A2 HGNC NCBI

Linked Data

dbSNP Id: rs1883300927
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110492016C>G , CM000675.2:g.110492016C>G GRCh38
NC_000013.10:g.111144363C>G , CM000675.1:g.111144363C>G GRCh37
NC_000013.9:g.109942364C>G NCBI36
NG_032137.1:g.189733C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360467.7:c.3455-54C>G MANE Select ENSP00000353654.5:n.3455-54C>G
ENST00000650225.1:n.1110-54C>G
ENST00000360467.5:c.3455-54C>G ENSP00000353654.5:n.3455-54C>G
NM_001846.2:c.3455-54C>G NP_001837.2:n.3455-54C>G
NM_001846.3:c.3455-54C>G NP_001837.2:n.3455-54C>G
NM_001846.4:c.3455-54C>G MANE Select NP_001837.2:n.3455-54C>G
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