Canonical Allele Identifier: CA467387209
Gene: HMCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.133308783T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130433396T>A , CM000671.2:g.130433396T>A GRCh38
NC_000009.11:g.133308783T>A , CM000671.1:g.133308783T>A GRCh37
NC_000009.10:g.132298604T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624552.4:c.14886T>A ENSP00000485357.2:p.Ser4962=
ENST00000683500.2:c.14943T>A MANE Select ENSP00000508292.2:p.Ser4981=
ENST00000623487.1:n.3289T>A
ENST00000624552.3:c.14883T>A ENSP00000485357.1:p.Ser4961=
NM_001291815.1:c.14943T>A NP_001278744.1:p.Ser4981=
XM_011518465.1:c.14820T>A XP_011516767.1:p.Ser4940=
XM_011518466.1:c.14811T>A XP_011516768.1:p.Ser4937=
XM_011518467.1:c.14766T>A XP_011516769.1:p.Ser4922=
NM_001291815.2:c.14943T>A MANE Select NP_001278744.1:p.Ser4981=
XM_011518465.2:c.14820T>A XP_011516767.1:p.Ser4940=
XM_011518466.2:c.14811T>A XP_011516768.1:p.Ser4937=
XM_011518467.2:c.14766T>A XP_011516769.1:p.Ser4922=
XM_017014585.1:c.11724T>A XP_016870074.1:p.Ser3908=
XM_017014586.1:c.7521T>A XP_016870075.1:p.Ser2507=
XR_001746957.1:n.92+225A>T
XR_001746958.1:n.92+225A>T