Canonical Allele Identifier: CA7849356
Community Standard Title: NM_016333.4(SRRM2):c.7934C>T (p.Ser2645Leu)
Gene: SRRM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2769197C>T , CM000678.2:g.2769197C>T GRCh38
NC_000016.9:g.2819198C>T , CM000678.1:g.2819198C>T GRCh37
NC_000016.8:g.2759199C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016333.4:c.7934C>T MANE Select NP_057417.3:p.Ser2645Leu
ENST00000301740.13:c.7934C>T MANE Select ENSP00000301740.8:p.Ser2645Leu
NM_016333.3:c.7934C>T NP_057417.3:p.Ser2645Leu
ENST00000301740.12:c.7934C>T ENSP00000301740.8:p.Ser2645Leu
ENST00000570705.1:n.418C>T
ENST00000571041.1:n.273C>T
ENST00000572883.1:c.836C>T
ENST00000572883.2:c.3847C>T ENSP00000460642.2:n.3847C>T
ENST00000573311.1:n.382C>T
ENST00000574593.1:n.956C>T
ENST00000576878.1:n.452C>T
ENST00000576924.6:c.7934C>T ENSP00000461181.2:p.Ser2645Leu
ENST00000630499.2:c.883-2107C>T ENSP00000487247.1:n.883-2107C>T
XM_005255226.1:c.7934C>T XP_005255283.1:p.Ser2645Leu
XM_005255226.2:c.7934C>T XP_005255283.1:p.Ser2645Leu
XR_001751880.2:n.9909C>T
XR_001751881.2:n.7887C>T
XR_001751882.2:n.7826C>T
XR_001751883.2:n.7884C>T
XR_001751884.2:n.10401C>T
XR_001751885.2:n.10004C>T
XR_001751886.1:n.7322C>T
XR_002957795.1:n.10401C>T
XR_002957796.1:n.10004C>T
XR_243270.1:n.8461C>T
XR_243270.2:n.9909C>T
XR_932814.1:n.8461C>T
XR_932814.2:n.9909C>T
XR_932815.1:n.8469C>T
XR_932815.2:n.9917C>T
XR_932816.1:n.8163C>T
XR_932816.2:n.8462C>T
XR_932817.1:n.8461C>T
XR_932817.2:n.9909C>T
XR_932818.1:n.8461C>T
XR_932819.1:n.8458C>T
XR_932819.2:n.9906C>T
XR_932821.1:n.8556C>T